ClinVar Miner

Submissions for variant NM_001111125.3(IQSEC2):c.2571C>A (p.Ile857=)

gnomAD frequency: 0.00046  dbSNP: rs146979083
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001528374 SCV000526430 benign not provided 2018-09-26 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000418659 SCV000595257 likely benign not specified 2016-07-22 criteria provided, single submitter clinical testing
Invitae RCV000543157 SCV000649575 benign Intellectual disability, X-linked 1 2024-02-01 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000418659 SCV000706968 benign not specified 2017-05-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311497 SCV000846017 benign Inborn genetic diseases 2017-03-21 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528374 SCV001740029 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001528374 SCV001931126 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001528374 SCV001968310 likely benign not provided no assertion criteria provided clinical testing

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