ClinVar Miner

Submissions for variant NM_000360.4(TH):c.12C>A (p.Pro4=)

dbSNP: rs147131010
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001277080 SCV001542450 likely benign Autosomal recessive DOPA responsive dystonia 2024-12-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277080 SCV001463828 uncertain significance Autosomal recessive DOPA responsive dystonia 2020-09-16 no assertion criteria provided clinical testing

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