ClinVar Miner

Submissions for variant NM_000360.4(TH):c.1257G>A (p.Val419=)

gnomAD frequency: 0.00001  dbSNP: rs1299170832
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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 RCV002173141 SCV002349738 likely benign Autosomal recessive DOPA responsive dystonia 2024-10-17 criteria provided, single submitter clinical testing

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