Submissions for variant NM_017617.5(NOTCH1):c.6636C>T (p.Asp2212=)

gnomAD frequency: 0.00035  dbSNP: rs370606059

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002310980	SCV000319752	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2015-06-22	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	RCV000466065	SCV000559941	likely benign	Adams-Oliver syndrome 5	2023-12-10	criteria provided, single submitter	clinical testing
GeneDx	RCV001697607	SCV000723499	likely benign	not provided	2021-03-09	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000466065	SCV002553842	likely benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270171	SCV002553843	likely benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV002310980	SCV003838458	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2021-11-02	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001697607	SCV004563955	likely benign	not provided	2023-05-11	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003939919	SCV004760601	likely benign	NOTCH1-related condition	2020-08-24	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).