Submissions for variant NM_017617.5(NOTCH1):c.5988G>A (p.Thr1996=)

gnomAD frequency: 0.00235  dbSNP: rs186453356

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000229557	SCV000290294	benign	Adams-Oliver syndrome 5	2024-01-29	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000293191	SCV000339114	likely benign	not specified	2016-02-05	criteria provided, single submitter	clinical testing
GeneDx	RCV000293191	SCV000525647	benign	not specified	2016-10-11	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	RCV002313954	SCV000738411	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2015-10-26	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000660175	SCV000782169	likely benign	Connective tissue disorder	2016-11-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000229557	SCV002554247	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270055	SCV002554248	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001726067	SCV003799930	benign	not provided	2023-06-14	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000293191	SCV004029540	benign	not specified	2023-07-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001726067	SCV004161998	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	NOTCH1: BP4, BP7, BS2
PreventionGenetics, part of Exact Sciences	RCV004532950	SCV004735033	benign	NOTCH1-related disorder	2019-06-10	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Breakthrough Genomics, Breakthrough Genomics	RCV001726067	SCV005228662	likely benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000293191	SCV001807249	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001726067	SCV001967391	likely benign	not provided		no assertion criteria provided	clinical testing