ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.538A>G (p.Met180Val)

gnomAD frequency: 0.00001  dbSNP: rs569297468
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001091761 SCV001247968 uncertain significance not provided 2019-08-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001212923 SCV001384533 benign Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2023-07-03 criteria provided, single submitter clinical testing

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