ClinVar Miner

Submissions for variant NM_001111125.3(IQSEC2):c.3365G>A (p.Arg1122His)

dbSNP: rs868984872
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002049743 SCV002107365 uncertain significance not provided 2022-03-16 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Laboratory of Medical Genetics, University of Torino RCV002464494 SCV002760049 uncertain significance Intellectual disability, X-linked 1 2022-11-29 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV002464494 SCV004622115 benign Intellectual disability, X-linked 1 2023-05-16 criteria provided, single submitter clinical testing

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