ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.1057-40T>C

gnomAD frequency: 0.49671  dbSNP: rs384216
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000830038 SCV000971771 benign not provided 2018-06-14 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.
Genome-Nilou Lab RCV002245702 SCV002513932 benign Developmental and epileptic encephalopathy, 28 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002245701 SCV002513933 benign Autosomal recessive spinocerebellar ataxia 12 2021-12-05 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV004594168 SCV005087580 benign not specified 2024-07-15 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 56% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 52. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV000830038 SCV005254580 benign not provided criteria provided, single submitter not provided

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