Submissions for variant NM_001111125.3(IQSEC2):c.3735C>T (p.His1245=)

gnomAD frequency: 0.00019  dbSNP: rs797045630

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000194534	SCV000247634	uncertain significance	not specified	2014-10-21	criteria provided, single submitter	clinical testing
GeneDx	RCV000194534	SCV000724098	likely benign	not specified	2017-10-26	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	RCV000909459	SCV001054265	likely benign	Intellectual disability, X-linked 1	2025-01-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002362999	SCV002624184	likely benign	Inborn genetic diseases	2019-10-23	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001701555	SCV001931652	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001701555	SCV001976012	likely benign	not provided		no assertion criteria provided	clinical testing