ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2635C>T (p.Arg879Trp)

gnomAD frequency: 0.00003  dbSNP: rs587778563
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000529805 SCV000659407 benign Adams-Oliver syndrome 5 2025-01-22 criteria provided, single submitter clinical testing
ITMI RCV000121670 SCV000085868 not provided not specified 2013-09-19 no assertion provided reference population

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