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

gnomAD frequency: 0.01655  dbSNP: rs61751543

Total submissions: 18

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000121680	SCV000228070	benign	not specified	2015-04-06	criteria provided, single submitter	clinical testing
Invitae	RCV000229594	SCV000290271	benign	Adams-Oliver syndrome 5	2024-01-31	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	RCV002313937	SCV000738276	benign	Familial thoracic aortic aneurysm and aortic dissection	2015-02-23	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen	RCV001699039	SCV002546128	benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	NOTCH1: BS1, BS2
Genome-Nilou Lab	RCV000229594	SCV002554463	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002269856	SCV002554464	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002492434	SCV002796000	likely benign	Aortic valve disease 1; Adams-Oliver syndrome 5	2021-10-08	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000121680	SCV003928449	likely benign	not specified	2023-04-09	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001699039	SCV004562951	benign	not provided	2023-11-13	criteria provided, single submitter	clinical testing
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
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001699039	SCV001953685	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000121680	SCV001971509	benign	not specified		no assertion criteria provided	clinical testing