ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.39C>G (p.Ala13=)

dbSNP: rs1581175017
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000998482 SCV001154576 uncertain significance not provided 2016-09-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003769369 SCV004583589 likely benign Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4 2024-06-17 criteria provided, single submitter clinical testing

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