ClinVar Miner

Submissions for variant NM_015352.2(POFUT1):c.125-15A>G

gnomAD frequency: 0.00003  dbSNP: rs779481012
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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 RCV001917045 SCV002193217 likely benign Dowling-Degos disease 2 2023-10-13 criteria provided, single submitter clinical testing

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