ClinVar Miner

Submissions for variant NM_198903.2(GABRG2):c.360G>A (p.Thr120=) (rs77298346)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000717978 SCV000848839 benign Seizures 2016-04-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000125176 SCV000168617 benign not specified 2013-02-12 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.
Invitae RCV000465399 SCV000558896 benign Epilepsy, childhood absence 2; Familial febrile seizures 8 2017-12-08 criteria provided, single submitter clinical testing

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