ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.1274T>C (p.Ile425Thr)

dbSNP: rs1755414752
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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 RCV001300915 SCV001490066 uncertain significance Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4 2021-08-28 criteria provided, single submitter clinical testing

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