ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.274G>C (p.Gly92Arg)

gnomAD frequency: 0.00002  dbSNP: rs1397413424
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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 RCV000694054 SCV000822481 uncertain significance Adams-Oliver syndrome 5 2021-08-28 criteria provided, single submitter clinical testing

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