Submissions for variant NM_017617.5(NOTCH1):c.6582C>T (p.Ser2194=)

gnomAD frequency: 0.00001  dbSNP: rs200853719

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000418936	SCV000532278	likely benign	not specified	2016-10-05	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000868655	SCV001010013	likely benign	Adams-Oliver syndrome 5	2023-08-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000868655	SCV002553849	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270435	SCV002553850	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002374696	SCV002667143	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2019-12-18	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.