ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.228T>A (p.Val76=)

dbSNP: rs370579498
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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 RCV001910848 SCV002162119 likely benign Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2022-07-19 criteria provided, single submitter clinical testing

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