Submissions for variant NM_017617.5(NOTCH1):c.2427C>T (p.Asp809=)

gnomAD frequency: 0.00017  dbSNP: rs775162462

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001704544	SCV000534033	likely benign	not provided	2019-12-26	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001170160	SCV001332710	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-10-29	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001449119	SCV001652224	likely benign	Adams-Oliver syndrome 5	2024-06-17	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001449119	SCV002554953	likely benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270458	SCV002554955	likely benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001170160	SCV002737435	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2022-07-06	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.