ClinVar Miner

Submissions for variant NM_003070.5(SMARCA2):c.1514G>A (p.Arg505Gln) (rs1586657848)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001266425 SCV001444599 uncertain significance Inborn genetic diseases 2019-05-22 criteria provided, single submitter clinical testing
GeneDx RCV001559851 SCV001782162 pathogenic not provided 2020-03-25 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 32694869, 25533962, 28191890, 31036916)
Fondazione Telethon,Telethon Institute of Genetics and Medicine RCV001029747 SCV001169152 likely pathogenic Intellectual disability no assertion criteria provided clinical testing
OMIM RCV001375918 SCV001572898 pathogenic BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2021-04-30 no assertion criteria provided literature only

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