ClinVar Miner

Submissions for variant NM_001111125.3(IQSEC2):c.84C>T (p.Asn28=)

gnomAD frequency: 0.00115  dbSNP: rs782713602
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000435859 SCV000522662 likely benign not specified 2016-01-06 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000540810 SCV000649592 benign Intellectual disability, X-linked 1 2025-01-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003912674 SCV004734763 benign IQSEC2-related disorder 2019-05-23 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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