ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.844C>G (p.Pro282Ala)

gnomAD frequency: 0.07330  dbSNP: rs3764340
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249793 SCV000312711 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000249793 SCV000519735 benign not specified 2016-01-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001511255 SCV001718465 benign Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002244653 SCV002513919 benign Developmental and epileptic encephalopathy, 28 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002244652 SCV002513920 benign Autosomal recessive spinocerebellar ataxia 12 2021-12-05 criteria provided, single submitter clinical testing

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