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

gnomAD frequency: 0.00046  dbSNP: rs146979083

Total submissions: 8

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
Labcorp Genetics (formerly Invitae), Labcorp	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: seen in unaffected individuals, 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