ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.321G>A (p.Thr107=)

gnomAD frequency: 0.00003  dbSNP: rs367761610
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000828039 SCV000969715 likely benign not provided 2018-06-04 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 RCV001428639 SCV001631341 likely benign Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 2023-12-18 criteria provided, single submitter clinical testing

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