ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.723G>A (p.Gln241=)

gnomAD frequency: 0.00019  dbSNP: rs191029309
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697793 SCV000524900 likely benign not provided 2021-09-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000866422 SCV001007512 likely benign Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2025-01-19 criteria provided, single submitter clinical testing

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