ClinVar Miner

Submissions for variant NM_015352.2(POFUT1):c.429+17C>T

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003742255 SCV004457874 benign Dowling-Degos disease 2 2023-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004717899 SCV005315034 benign not provided criteria provided, single submitter not provided

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