ClinVar Miner

Submissions for variant NM_015352.2(POFUT1):c.735+11C>A

gnomAD frequency: 0.00006  dbSNP: rs543224684
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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 RCV002164424 SCV002477970 benign Dowling-Degos disease 2 2022-12-05 criteria provided, single submitter clinical testing

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