ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.725C>T (p.Thr242Ile)

dbSNP: rs759786297
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001373705 SCV001570435 benign Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4 2022-01-13 criteria provided, single submitter clinical testing

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