ClinVar Miner

Submissions for variant NM_000360.4(TH):c.576+7G>C

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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 RCV002636982 SCV003507756 likely benign Autosomal recessive DOPA responsive dystonia 2024-09-16 criteria provided, single submitter clinical testing

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