ClinVar Miner

Submissions for variant NM_025000.4(DCAF17):c.1053T>C (p.Ala351=)

gnomAD frequency: 0.00001  dbSNP: rs1574398684
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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 RCV003495190 SCV001008471 likely benign Woodhouse-Sakati syndrome 2023-04-30 criteria provided, single submitter clinical testing

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