ClinVar Miner

Submissions for variant NM_015352.2(POFUT1):c.600C>T (p.Pro200=)

gnomAD frequency: 0.00001  dbSNP: rs919433125
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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 RCV002166723 SCV002322020 likely benign Dowling-Degos disease 2 2021-07-04 criteria provided, single submitter clinical testing

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