ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.516+6T>C

gnomAD frequency: 0.75307  dbSNP: rs2303191
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248806 SCV000312705 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000248806 SCV000519661 benign not specified 2016-01-07 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.
Athena Diagnostics Inc RCV000714209 SCV000844899 benign not provided 2017-04-20 criteria provided, single submitter clinical testing
Invitae RCV001510047 SCV001716979 benign Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002244641 SCV002513889 benign Developmental and epileptic encephalopathy, 28 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002244640 SCV002513890 benign Autosomal recessive spinocerebellar ataxia 12 2021-12-05 criteria provided, single submitter clinical testing

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