ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.28T>C (p.Cys10Arg)

dbSNP: rs1217531305
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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 RCV001522514 SCV001732078 benign Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4 2022-08-26 criteria provided, single submitter clinical testing

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