ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1731C>T (p.Tyr577=)

gnomAD frequency: 0.00002  dbSNP: rs377472138
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000828229 SCV000969913 likely benign not provided 2019-07-08 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 RCV002271060 SCV001010790 likely benign Adams-Oliver syndrome 5 2023-04-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271060 SCV002555034 likely benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271059 SCV002555035 likely benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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