ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.848C>A (p.Thr283Lys)

gnomAD frequency: 0.00001  dbSNP: rs1186552961
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554060 SCV000652362 uncertain significance Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2021-09-01 criteria provided, single submitter clinical testing

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