ClinVar Miner

Submissions for variant NM_198904.4(GABRG2):c.247C>T (p.Pro83Ser)

dbSNP: rs587777365
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000115032 SCV001817440 likely pathogenic not provided 2017-12-14 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014).; In silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect; This variant is associated with the following publications: (PMID: 31087664, 31004928, 28717674, 21714819, 23216579, 24798517)
OMIM RCV000115032 SCV000148941 uncertain significance not provided 2011-07-01 no assertion criteria provided literature only

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