ClinVar Miner

Submissions for variant NM_003384.3(VRK1):c.72A>C (p.Ala24=)

gnomAD frequency: 0.00001  dbSNP: rs147698530
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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 RCV003061746 SCV002433078 likely benign Pontocerebellar hypoplasia type 1A 2024-12-23 criteria provided, single submitter clinical testing

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