ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3394C>T (p.Arg1132Cys)

gnomAD frequency: 0.00001  dbSNP: rs769854763
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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 RCV003066819 SCV003447397 benign Adams-Oliver syndrome 5 2022-07-26 criteria provided, single submitter clinical testing

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