ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2868C>T (p.Asn956=)

gnomAD frequency: 0.00004  dbSNP: rs760227470
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000459479 SCV000532654 likely benign not provided 2019-06-24 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 RCV001426893 SCV001629554 likely benign Adams-Oliver syndrome 5 2023-10-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001426893 SCV002554891 likely benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270439 SCV002554892 likely benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003485584 SCV004239529 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-07-26 criteria provided, single submitter clinical testing

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