ClinVar Miner

Submissions for variant NM_000360.4(TH):c.333C>T (p.His111=)

dbSNP: rs2133697797
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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 RCV001431288 SCV001634041 likely benign Autosomal recessive DOPA responsive dystonia 2020-08-05 criteria provided, single submitter clinical testing

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