ClinVar Miner

Submissions for variant NM_015352.2(POFUT1):c.542+15T>C

gnomAD frequency: 0.01440  dbSNP: rs57677611
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002139259 SCV002462000 benign Dowling-Degos disease 2 2024-01-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004717885 SCV005315037 benign not provided criteria provided, single submitter not provided

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