ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.74+6G>A

dbSNP: rs754431874
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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 RCV001371507 SCV001568074 uncertain significance Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4 2021-08-20 criteria provided, single submitter clinical testing

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