ClinVar Miner

Submissions for variant NM_000360.4(TH):c.1236C>T (p.Phe412=)

gnomAD frequency: 0.00006  dbSNP: rs367624648
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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 RCV001474964 SCV001679142 likely benign Autosomal recessive DOPA responsive dystonia 2025-01-06 criteria provided, single submitter clinical testing

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