ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.618G>A (p.Val206=)

dbSNP: rs376279847
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704379 SCV000528988 likely benign not provided 2021-06-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000650212 SCV000772049 benign Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2024-01-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002244914 SCV002513903 benign Developmental and epileptic encephalopathy, 28 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002244913 SCV002513904 benign Autosomal recessive spinocerebellar ataxia 12 2021-12-05 criteria provided, single submitter clinical testing

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