ClinVar Miner

Submissions for variant NM_000360.4(TH):c.951G>A (p.Ala317=)

dbSNP: rs1590167106
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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 RCV001271312 SCV001695521 likely benign Autosomal recessive DOPA responsive dystonia 2024-08-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271312 SCV001452393 uncertain significance Autosomal recessive DOPA responsive dystonia 2020-04-11 no assertion criteria provided clinical testing

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