ClinVar Miner

Submissions for variant NM_003384.3(VRK1):c.588A>T (p.Val196=)

gnomAD frequency: 0.00001  dbSNP: rs1387075963
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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 RCV002551599 SCV001594890 likely benign Pontocerebellar hypoplasia type 1A 2024-03-20 criteria provided, single submitter clinical testing

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