ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.747C>G (p.Arg249=)

dbSNP: rs375934868
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001718989 SCV000724134 likely benign not provided 2019-07-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000866718 SCV001007852 benign Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2024-01-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002245047 SCV002513909 benign Developmental and epileptic encephalopathy, 28 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002245046 SCV002513910 benign Autosomal recessive spinocerebellar ataxia 12 2021-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001718989 SCV004145066 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing WWOX: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003927999 SCV004745574 likely benign WWOX-related disorder 2019-09-25 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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