ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.886T>C (p.Leu296=)

gnomAD frequency: 0.00021  dbSNP: rs149677108
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001471437 SCV001675541 likely benign Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4 2024-01-19 criteria provided, single submitter clinical testing
GeneDx RCV001615167 SCV001842143 likely benign not provided 2020-04-30 criteria provided, single submitter clinical testing

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