ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.1197G>A (p.Ala399=)

gnomAD frequency: 0.00203  dbSNP: rs376935572
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000714205 SCV000525525 likely benign not provided 2021-10-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001082606 SCV000561083 benign Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2024-02-01 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000714205 SCV000844894 benign not provided 2018-06-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002244903 SCV002513939 benign Developmental and epileptic encephalopathy, 28 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002244902 SCV002513940 benign Autosomal recessive spinocerebellar ataxia 12 2021-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000714205 SCV004145070 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing WWOX: BP4
Breakthrough Genomics, Breakthrough Genomics RCV000714205 SCV005219217 likely benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000714205 SCV001929300 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000714205 SCV001964846 likely benign not provided no assertion criteria provided clinical testing

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