ClinVar Miner

Submissions for variant NM_198903.2(GABRG2):c.1440G>A (p.Gly480=) (rs150727562)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726479 SCV000344967 uncertain significance not provided 2016-09-09 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000390520 SCV000613373 likely benign not specified 2017-02-09 criteria provided, single submitter clinical testing
Invitae RCV001087008 SCV000645964 likely benign Epilepsy, childhood absence 2; Familial febrile seizures 8 2020-09-07 criteria provided, single submitter clinical testing
GeneDx RCV000390520 SCV000728474 likely benign not specified 2017-05-04 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.

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