Submissions for variant NM_017617.5(NOTCH1):c.6291G>A (p.Pro2097=)

gnomAD frequency: 0.00057  dbSNP: rs201987555

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000460493	SCV000559943	likely benign	Adams-Oliver syndrome 5	2024-01-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000769589	SCV000739371	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2016-11-22	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.
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000680584	SCV000808005	likely benign	Connective tissue disorder	2018-06-01	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769589	SCV000900986	uncertain significance	Familial thoracic aortic aneurysm and aortic dissection	2016-06-16	criteria provided, single submitter	clinical testing
GeneDx	RCV001591123	SCV001823192	likely benign	not provided	2021-01-21	criteria provided, single submitter	clinical testing