ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.557C>T (p.Thr186Met) (rs769801846)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000692376 SCV000820196 likely benign Epilepsy, childhood absence 1; Epilepsy, childhood absence 5 2019-06-19 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763952 SCV000894899 uncertain significance Epilepsy, childhood absence 5; Epileptic encephalopathy, early infantile, 43 2018-10-31 criteria provided, single submitter clinical testing

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