Submissions for variant NM_017617.5(NOTCH1):c.1863C>T (p.Arg621=)

gnomAD frequency: 0.00003  dbSNP: rs749374016

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000525044	SCV000659381	likely benign	Adams-Oliver syndrome 5	2022-08-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002413651	SCV002721923	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2020-12-02	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV002413651	SCV004239525	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2022-10-19	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579995	SCV001809297	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001579995	SCV001954613	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001579995	SCV001969625	likely benign	not provided		no assertion criteria provided	clinical testing