ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.190C>T (p.Arg64Cys)

dbSNP: rs1753807484
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001222933 SCV001395057 uncertain significance Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4 2021-08-26 criteria provided, single submitter clinical testing
GeneDx RCV003313194 SCV004012636 uncertain significance not provided 2023-01-06 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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