ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.1080+15A>G

gnomAD frequency: 0.34839  dbSNP: rs3751582
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243557 SCV000305545 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000243557 SCV000331407 benign not specified 2016-05-31 criteria provided, single submitter clinical testing
GeneDx RCV000243557 SCV000519360 benign not specified 2016-01-06 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 RCV001701808 SCV001933706 benign Developmental and epileptic encephalopathy, 43 2021-08-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002057403 SCV002453764 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 RCV000243557 SCV005087622 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 51% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 47. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV004715785 SCV005297412 benign not provided criteria provided, single submitter not provided

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