Submissions for variant NM_017617.5(NOTCH1):c.5673C>T (p.Ser1891=)

gnomAD frequency: 0.00289  dbSNP: rs2229972

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002310963	SCV000319663	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2015-05-21	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Invitae	RCV000461148	SCV000559880	benign	Adams-Oliver syndrome 5	2024-01-08	criteria provided, single submitter	clinical testing
GeneDx	RCV001697732	SCV000718843	likely benign	not provided	2020-09-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000461148	SCV002554276	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270165	SCV002554277	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003323480	SCV004029568	benign	not specified	2023-07-21	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003947816	SCV004761900	benign	NOTCH1-related condition	2019-04-04	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).