ClinVar Miner

Submissions for variant NM_018328.4(MBD5):c.973C>T (p.Arg325Ter) (rs1553518509)

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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 RCV000622906 SCV000741392 pathogenic Inborn genetic diseases 2016-03-28 criteria provided, single submitter clinical testing
Liping Wei Laboratory,Peking University RCV000754667 SCV000804759 pathogenic Autism spectrum disorder 2018-08-01 criteria provided, single submitter research
Diagnostic Laboratory, Strasbourg University Hospital RCV001257688 SCV001434499 pathogenic Intellectual disability 2020-04-20 criteria provided, single submitter clinical testing
GeneDx RCV001591397 SCV001814868 pathogenic not provided 2019-08-19 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 30763456)

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