ClinVar Miner

Submissions for variant NM_015352.2(POFUT1):c.736-5C>T

gnomAD frequency: 0.00002  dbSNP: rs550972707
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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 RCV001523302 SCV001732982 benign Dowling-Degos disease 2 2018-05-21 criteria provided, single submitter clinical testing

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