Submissions for variant NM_017617.5(NOTCH1):c.6397C>T (p.Pro2133Ser)

gnomAD frequency: 0.00484  dbSNP: rs61733294

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000769588	SCV000320649	benign	Familial thoracic aortic aneurysm and aortic dissection	2015-12-10	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.
GeneDx	RCV000417730	SCV000533443	benign	not specified	2017-01-05	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.
Invitae	RCV000475797	SCV000559928	benign	Adams-Oliver syndrome 5	2024-01-31	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769588	SCV000900985	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2016-08-12	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000475797	SCV002553864	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270196	SCV002553865	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000417730	SCV004029565	likely benign	not specified	2023-07-21	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004542962	SCV004793272	benign	NOTCH1-related disorder	2019-04-29	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).