ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.1265C>T (p.Pro422Leu)

gnomAD frequency: 0.00003  dbSNP: rs369631109
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000516729 SCV000613364 uncertain significance not specified 2017-04-03 criteria provided, single submitter clinical testing
GeneDx RCV001707717 SCV000726580 likely benign not provided 2020-12-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001034398 SCV001197740 likely benign Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 2024-07-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002527474 SCV003731621 likely benign Inborn genetic diseases 2021-07-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Revvity Omics, Revvity RCV003129879 SCV003816276 uncertain significance Developmental and epileptic encephalopathy, 43 2022-08-24 criteria provided, single submitter clinical testing

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