Submissions for variant NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile)

gnomAD frequency: 0.01849  dbSNP: rs61751489

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000121704	SCV000332792	benign	not specified	2015-07-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000121704	SCV000520855	benign	not specified	2016-10-04	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000463376	SCV000559909	benign	Adams-Oliver syndrome 5	2025-02-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312816	SCV000738341	benign	Familial thoracic aortic aneurysm and aortic dissection	2015-02-20	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.
Genome-Nilou Lab	RCV000463376	SCV002553813	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002269866	SCV002553815	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001573999	SCV003800561	benign	not provided	2023-11-27	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000121704	SCV003928451	likely benign	not specified	2023-04-10	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001573999	SCV005323724	benign	not provided		criteria provided, single submitter	not provided
ITMI	RCV000121704	SCV000085902	not provided	not specified	2013-09-19	no assertion provided	reference population
University of Washington Center for Mendelian Genomics, University of Washington	RCV001291517	SCV001480025	uncertain significance	Hypoplastic left heart syndrome		no assertion criteria provided	research
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573999	SCV001800663	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000121704	SCV001807899	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000121704	SCV001928040	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000121704	SCV001959059	benign	not specified		no assertion criteria provided	clinical testing