ClinVar Miner

Submissions for variant NM_004586.3(RPS6KA3):c.2186G>A (p.Arg729Gln) (rs28935171)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413967 SCV000491152 pathogenic not provided 2019-05-07 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 16879200, 10094187, 11180593)
Diagnostic Laboratory, Strasbourg University Hospital RCV001257622 SCV001434432 likely pathogenic Intellectual disability 2020-04-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV001266366 SCV001444540 likely pathogenic Inborn genetic diseases 2018-03-15 criteria provided, single submitter clinical testing
OMIM RCV000012424 SCV000032658 pathogenic Coffin-Lowry syndrome 1999-01-01 no assertion criteria provided literature only

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