ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.1185G>C (p.Arg395=)

dbSNP: rs1296581246
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001570577 SCV001794895 likely benign not provided 2019-12-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002569049 SCV003210188 likely benign Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2023-06-13 criteria provided, single submitter clinical testing

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