ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.324C>T (p.Asp108=)

gnomAD frequency: 0.00005  dbSNP: rs377442022
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721394 SCV000532431 likely benign not provided 2018-10-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000534719 SCV000652346 likely benign Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2024-12-02 criteria provided, single submitter clinical testing

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