ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.753T>C (p.Tyr251=)

gnomAD frequency: 0.00002  dbSNP: rs150534186
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000433987 SCV000534369 likely benign not specified 2016-11-28 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 RCV000865908 SCV001006935 likely benign Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 2023-09-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003392252 SCV004131453 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing GABRB3: BP4, BP7

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