ClinVar Miner

Submissions for variant NM_001111125.3(IQSEC2):c.3397G>A (p.Asp1133Asn)

gnomAD frequency: 0.00001  dbSNP: rs1556859667
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001754852 SCV001996475 uncertain significance not provided 2019-10-03 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin RCV002285028 SCV002574869 uncertain significance Intellectual disability, X-linked 1 2022-09-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002285028 SCV003307887 likely benign Intellectual disability, X-linked 1 2022-10-15 criteria provided, single submitter clinical testing

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