ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.108-13dup

dbSNP: rs146697931
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000836291 SCV000978133 benign not provided 2018-06-19 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001511253 SCV001718463 benign Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002245707 SCV002513870 benign Developmental and epileptic encephalopathy, 28 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002245706 SCV002513871 benign Autosomal recessive spinocerebellar ataxia 12 2021-12-05 criteria provided, single submitter clinical testing
GeneDx RCV000836291 SCV000973737 benign not provided 2018-06-14 flagged submission 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.

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