ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.831G>A (p.Glu277=)

gnomAD frequency: 0.00001  dbSNP: rs764666718
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187492 SCV000241086 benign not specified 2015-01-06 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 RCV000533989 SCV000645985 benign Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4 2023-12-21 criteria provided, single submitter clinical testing

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