Submissions for variant NM_017617.5(NOTCH1):c.5073G>A (p.Gln1691=)

gnomAD frequency: 0.00341  dbSNP: rs61751538

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000227744	SCV000290282	benign	Adams-Oliver syndrome 5	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001171098	SCV000319448	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2015-02-20	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.
GeneDx	RCV000418388	SCV000530492	benign	not specified	2018-01-24	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.
Eurofins Ntd Llc (ga)	RCV000418388	SCV000707298	benign	not specified	2017-04-06	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000660170	SCV000782164	likely benign	Connective tissue disorder	2016-11-01	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001171098	SCV001333776	benign	Familial thoracic aortic aneurysm and aortic dissection	2017-11-29	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000227744	SCV002554337	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270048	SCV002554339	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001579392	SCV002564087	benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	NOTCH1: BP4, BP7, BS1, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001579392	SCV003799684	benign	not provided	2023-11-05	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000418388	SCV004029576	benign	not specified	2023-07-21	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001579392	SCV005228670	likely benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579392	SCV001807061	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001579392	SCV001971100	likely benign	not provided		no assertion criteria provided	clinical testing