ClinVar Miner

Submissions for variant NM_000816.3(GABRG2):c.922+6A>G (rs375294947)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000710137 SCV000613375 benign not provided 2018-03-08 criteria provided, single submitter clinical testing
GeneDx RCV000187513 SCV000241107 likely benign not specified 2017-05-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000304075 SCV000456085 uncertain significance Generalized epilepsy with febrile seizures plus 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000361211 SCV000456086 uncertain significance Severe myoclonic epilepsy in infancy 2016-06-14 criteria provided, single submitter clinical testing

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