ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.422T>G (p.Met141Arg)

gnomAD frequency: 0.00001  dbSNP: rs1235304350
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001513662 SCV001721315 benign Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4 2023-05-08 criteria provided, single submitter clinical testing

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