Display options
Cite
Grant AR, Hemphill SE, Vincent LM, et al. Reclassification of the . Cold Spring Harb Mol Case Stud. 2018;4(5)doi: 10.1101/mcs.a002675.
Grant, A. R., Hemphill, S. E., Vincent, L. M., & Rehm, H. L. (2018). Reclassification of the . Cold Spring Harbor molecular case studies, 4(5), . https://doi.org/10.1101/mcs.a002675
Grant, Andrew R, et al. "Reclassification of the ." Cold Spring Harbor molecular case studies vol. 4,5 (2018). doi: https://doi.org/10.1101/mcs.a002675
Grant AR, Hemphill SE, Vincent LM, Rehm HL. Reclassification of the . Cold Spring Harb Mol Case Stud. 2018 Oct 01;4(5). doi: 10.1101/mcs.a002675. Print 2018 Oct. PMID: 29945942; PMCID: PMC6169827.
Copy Download .nbib Format: NLM
Share it on

Cold Spring Harb Mol Case Stud. 2018 Oct 01;4(5). doi: 10.1101/mcs.a002675. Print 2018 Oct.

Reclassification of the .

Cold Spring Harbor molecular case studies

Andrew R Grant, Sarah E Hemphill, Lisa M Vincent, Heidi L Rehm

Affiliations

  1. Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts 02139, USA.
  2. GeneDx, Gaithersburg, Maryland 20877, USA.
  3. Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.
  4. The Broad Institute of Harvard and MIT, Cambridge, Massachusetts 02142, USA.

PMID: 29945942 PMCID: PMC6169827 DOI: 10.1101/mcs.a002675

Abstract

The ClinVar database is a useful tool for patients and physicians to view variant interpretations submitted by clinical and nonclinical labs. However, variants of uncertain significance (VUS) in ClinVar can pose a significant burden on patients. If possible, it is important to resolve discrepancies and uncertainties surrounding interpreted variants. Here we highlight a case of a family who received a report of a variant (c.622A>G, p.Ile208Val) in

© 2018 Grant et al.; Published by Cold Spring Harbor Laboratory Press.

Keywords: increased nuchal translucency; intellectual disability, moderate; short stature; webbed neck

References

  1. Genet Med. 2018 Mar 01;:null - PubMed
  2. J Pediatr. 2011 Dec;159(6):1029-35 - PubMed
  3. Prenat Diagn. 1999 Jul;19(7):642-7 - PubMed
  4. Mol Cancer Ther. 2006 Nov;5(11):2606-12 - PubMed
  5. J Pediatr. 2004 Mar;144(3):368-74 - PubMed
  6. Am J Hum Genet. 2016 Nov 3;99(5):1140-1149 - PubMed
  7. Nat Rev Cancer. 2014 Jul;14(7):455-67 - PubMed
  8. J Invest Dermatol. 2016 Sep;136(9):1755-9 - PubMed
  9. J Med Genet. 2008 Aug;45(8):500-6 - PubMed
  10. Genet Med. 2017 Oct;19(10):1096-1104 - PubMed
  11. Ophthalmology. 2016 Oct;123(10):2137-46 - PubMed
  12. Genet Med. 2015 May;17(5):405-24 - PubMed
  13. Cold Spring Harb Mol Case Stud. 2018 Feb 1;4(1): - PubMed
  14. Clin Genet. 2013 Nov;84(5):453-63 - PubMed
  15. Hum Mutat. 2009 Apr;30(4):695-702 - PubMed
  16. Nat Genet. 2007 Aug;39(8):1013-7 - PubMed

Substances

MeSH terms

Publication Types