ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.942C>T (p.Arg314=)

gnomAD frequency: 0.00002  dbSNP: rs568012503
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000842487 SCV000984510 likely benign not provided 2020-04-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001407772 SCV001609754 likely benign Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2024-06-03 criteria provided, single submitter clinical testing

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