ClinVar Miner

Submissions for variant NM_018105.3(THAP1):c.525G>C (p.Arg175=)

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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 RCV003090881 SCV003469496 likely benign Torsion dystonia 6 2022-04-10 criteria provided, single submitter clinical testing

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