Submissions for variant NM_017617.5(NOTCH1):c.4887C>T (p.His1629=)

gnomAD frequency: 0.00182  dbSNP: rs61751539

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000770624	SCV000319409	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2015-02-06	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	RCV001722374	SCV000532095	likely benign	not provided	2021-05-11	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 21457232)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000456348	SCV000559871	benign	Adams-Oliver syndrome 5	2024-01-31	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000660168	SCV000782162	likely benign	Connective tissue disorder	2016-11-01	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000770624	SCV000902075	benign	Familial thoracic aortic aneurysm and aortic dissection	2016-03-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000456348	SCV002554365	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270151	SCV002554366	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003323479	SCV004029498	benign	not specified	2023-07-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001722374	SCV004162011	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	NOTCH1: BP4, BP7, BS1, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001722374	SCV004563851	benign	not provided	2023-11-14	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004535221	SCV004723812	benign	NOTCH1-related disorder	2020-02-26	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).
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001722374	SCV002035156	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001722374	SCV002037335	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001722374	SCV002038339	likely benign	not provided		no assertion criteria provided	clinical testing