ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4756C>T (p.Arg1586Cys)

gnomAD frequency: 0.00006  dbSNP: rs1418474023
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001979237 SCV002252717 benign Adams-Oliver syndrome 5 2023-01-31 criteria provided, single submitter clinical testing

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