ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.114C>T (p.Thr38=)

gnomAD frequency: 0.00004  dbSNP: rs372635270
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500053 SCV000598002 likely benign not specified 2017-05-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003766859 SCV004570645 likely benign Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2024-03-19 criteria provided, single submitter clinical testing

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