ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.704-10T>C

gnomAD frequency: 0.00006  dbSNP: rs188133840
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732645 SCV000860621 uncertain significance not provided 2018-04-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001523628 SCV001733373 benign Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4 2021-11-22 criteria provided, single submitter clinical testing
GeneDx RCV000732645 SCV001888907 benign not provided 2019-03-26 criteria provided, single submitter clinical testing

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