ClinVar Miner

Submissions for variant NM_198903.2(GABRG2):c.1374C>T (p.Asp458=) (rs113085352)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000432272 SCV000513099 benign not specified 2015-05-04 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.
Invitae RCV000645383 SCV000767128 likely benign not provided 2018-11-30 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001157822 SCV001319427 uncertain significance Epilepsy, childhood absence 2 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV001470948 SCV001675048 likely benign Epilepsy, childhood absence 2; Familial febrile seizures 8 2020-11-23 criteria provided, single submitter clinical testing

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