ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.468G>T (p.Arg156Ser)

gnomAD frequency: 0.00063  dbSNP: rs140817689
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001081708 SCV000561079 likely benign Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV000480602 SCV000569183 benign not provided 2020-10-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000480602 SCV001151019 uncertain significance not provided 2024-04-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002244945 SCV002513887 benign Developmental and epileptic encephalopathy, 28 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002244944 SCV002513888 benign Autosomal recessive spinocerebellar ataxia 12 2021-12-05 criteria provided, single submitter clinical testing
Athena Diagnostics RCV004999506 SCV005621102 benign not specified 2024-11-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003960093 SCV004769544 benign WWOX-related disorder 2019-08-27 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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