ClinVar Miner

Submissions for variant NM_020732.3(ARID1B):c.4009C>T (p.Arg1337Ter) (rs773740590)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics,Klinikum rechts der Isar RCV000578297 SCV000680143 pathogenic Coffin-Siris syndrome 1 2017-09-08 criteria provided, single submitter clinical testing
GeneDx RCV000578964 SCV000680674 pathogenic not provided 2018-04-30 criteria provided, single submitter clinical testing The R1337X variant in the ARID1B gene has been reported previously in an individual with features of Coffin-Siris syndrome (Santen et al., 2013). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R1337X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret R1337X as a pathogenic variant.
Ambry Genetics RCV000624544 SCV000741662 pathogenic Inborn genetic diseases 2016-07-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected

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