Submissions for variant NM_001111125.3(IQSEC2):c.2508G>A (p.Ala836=)

gnomAD frequency: 0.00060  dbSNP: rs2274308

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000445018	SCV000528488	benign	not specified	2018-02-02	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	RCV001081247	SCV000649574	benign	Intellectual disability, X-linked 1	2024-01-18	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000712006	SCV000842419	benign	not provided	2018-01-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002318466	SCV000849614	benign	Inborn genetic diseases	2017-04-27	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.
Breakthrough Genomics, Breakthrough Genomics	RCV000712006	SCV005279227	benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000712006	SCV001932534	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000712006	SCV001972447	likely benign	not provided		no assertion criteria provided	clinical testing