ClinVar Miner

Submissions for variant NM_001111125.3(IQSEC2):c.2984G>A (p.Arg995Gln)

dbSNP: rs886041767
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000369234 SCV000330518 pathogenic not provided 2023-05-31 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 20473311, 33504798, 35118825)
Clinical Genetics and Genomics, Karolinska University Hospital RCV000369234 SCV001449653 likely pathogenic not provided 2016-10-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000369234 SCV001962628 likely pathogenic not provided 2021-09-01 criteria provided, single submitter clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001251779 SCV001427521 likely pathogenic Intellectual disability, X-linked 1 2019-01-01 no assertion criteria provided clinical testing

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