ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.240+13C>T

gnomAD frequency: 0.12842  dbSNP: rs8179186
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248323 SCV000305546 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000248323 SCV000519404 benign not specified 2016-01-08 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001514890 SCV001722849 benign Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 2024-02-01 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000248323 SCV005087605 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 53% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 49. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV004714571 SCV005297428 benign not provided criteria provided, single submitter not provided

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