ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3887G>A (p.Arg1296His)

gnomAD frequency: 0.00004  dbSNP: rs368400902
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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 RCV000800498 SCV000940217 benign Adams-Oliver syndrome 5 2024-12-16 criteria provided, single submitter clinical testing

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