ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.605+1_605+2delinsAA

dbSNP: rs2151934194
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001993945 SCV002263950 likely pathogenic Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2021-08-12 criteria provided, single submitter clinical testing

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