ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2679C>T (p.Cys893=)

gnomAD frequency: 0.00001  dbSNP: rs373306460
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001787568 SCV002031004 likely benign not provided 2021-06-01 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27535533)
Labcorp Genetics (formerly Invitae), Labcorp RCV003586312 SCV004323828 likely benign Adams-Oliver syndrome 5 2024-11-25 criteria provided, single submitter clinical testing

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