ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1256-15G>A

gnomAD frequency: 0.00002  dbSNP: rs200086842
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001335841 SCV001529083 uncertain significance Aortic valve disease 1 2018-03-02 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002070206 SCV002473035 likely benign Adams-Oliver syndrome 5 2025-01-07 criteria provided, single submitter clinical testing

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