ClinVar Miner

Submissions for variant NM_000815.5(GABRD):c.659G>A (p.Arg220His) (rs41307846)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000535201 SCV000632048 benign Idiopathic generalized epilepsy 2017-08-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711732 SCV000842120 likely benign not provided 2018-06-29 criteria provided, single submitter clinical testing
OMIM RCV000017599 SCV000037872 risk factor Generalized epilepsy with febrile seizures plus type 5 2005-06-01 no assertion criteria provided literature only
OMIM RCV000017600 SCV000037873 risk factor Epilepsy, juvenile myoclonic 7 2005-06-01 no assertion criteria provided literature only
OMIM RCV000022558 SCV000043847 risk factor Epilepsy, idiopathic generalized 10 2005-06-01 no assertion criteria provided literature only

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