ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His) (rs61751543)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000121680 SCV000228070 benign not specified 2015-04-06 criteria provided, single submitter clinical testing
Invitae RCV000229594 SCV000290271 benign Adams-Oliver syndrome 5 2020-12-07 criteria provided, single submitter clinical testing
GeneDx RCV000121680 SCV000520857 benign not specified 2016-10-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000618848 SCV000738276 benign Cardiovascular phenotype 2015-02-23 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
ITMI RCV000121680 SCV000085878 not provided not specified 2013-09-19 no assertion provided reference population
University of Washington Center for Mendelian Genomics, University of Washington RCV001291515 SCV001480023 uncertain significance Hypoplastic left heart syndrome no assertion criteria provided research
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000121680 SCV001739563 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000121680 SCV001797828 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000121680 SCV001808719 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001699039 SCV001927041 likely benign not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV001699039 SCV001953685 likely benign not provided no assertion criteria provided clinical testing

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