ClinVar Miner

Submissions for variant NM_003384.3(VRK1):c.729T>C (p.Asp243=)

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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 RCV002740853 SCV003016738 likely benign Pontocerebellar hypoplasia type 1A 2023-10-10 criteria provided, single submitter clinical testing

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