Submissions for variant NM_017617.5(NOTCH1):c.4635C>T (p.Cys1545=)

gnomAD frequency: 0.00004  dbSNP: rs775752102

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000473857	SCV000559942	likely benign	Adams-Oliver syndrome 5	2025-01-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004022968	SCV005027368	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2023-10-26	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV004767288	SCV005380691	benign	not specified	2024-08-11	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001580130	SCV001809784	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001580130	SCV001956264	likely benign	not provided		no assertion criteria provided	clinical testing