ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.783G>A (p.Ser261=)

gnomAD frequency: 0.02298  dbSNP: rs76812964
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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 RCV000244480 SCV000305548 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000244480 SCV000520458 benign not specified 2016-01-26 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 RCV000474815 SCV000560916 benign Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715852 SCV000846683 benign Seizure 2016-04-11 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Breakthrough Genomics, Breakthrough Genomics RCV004714573 SCV005297416 benign not provided criteria provided, single submitter not provided

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