ClinVar Miner

Submissions for variant NM_001111125.3(IQSEC2):c.188A>G (p.Glu63Gly) (rs782051125)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622887 SCV000741415 likely benign Inborn genetic diseases 2016-10-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
Ambry Genetics RCV000719673 SCV000850543 benign History of neurodevelopmental disorder 2017-03-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
GeneDx RCV000425177 SCV000524613 likely benign not specified 2017-07-21 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
GenomeConnect, ClinGen RCV000554930 SCV000840316 not provided Mental retardation, X-linked 1 no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Invitae RCV000554930 SCV000649570 benign Mental retardation, X-linked 1 2017-11-18 criteria provided, single submitter clinical testing

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