ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.543C>G (p.Thr181=)

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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 RCV002576570 SCV002936435 likely benign Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2024-03-17 criteria provided, single submitter clinical testing

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