ClinVar Miner

Submissions for variant NM_198904.4(GABRG2):c.582G>A (p.Leu194=)

gnomAD frequency: 0.00002  dbSNP: rs781498456
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178808 SCV000230967 uncertain significance not provided 2014-08-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088589 SCV001044250 benign Epilepsy, childhood absence 2; Febrile seizures, familial, 8 2024-10-31 criteria provided, single submitter clinical testing

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