Submissions for variant NM_017617.5(NOTCH1):c.4056C>T (p.Cys1352=)

gnomAD frequency: 0.00147  dbSNP: rs200099319

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000536502	SCV000659439	benign	Adams-Oliver syndrome 5	2023-11-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001704685	SCV000717390	likely benign	not provided	2021-04-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001171104	SCV000739381	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2016-04-26	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001171104	SCV001333782	benign	Familial thoracic aortic aneurysm and aortic dissection	2017-12-01	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV001335843	SCV001529085	uncertain significance	Aortic valve disease 1	2018-06-29	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003330796	SCV004039372	benign	not specified	2023-08-24	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003925738	SCV004740944	benign	NOTCH1-related condition	2019-09-26	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).