Submissions for variant NM_001111125.3(IQSEC2):c.4104G>A (p.Leu1368=)

gnomAD frequency: 0.07175  dbSNP: rs184087864

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079473	SCV000111352	benign	not specified	2016-03-31	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000079473	SCV000151458	benign	not specified	2013-07-08	criteria provided, single submitter	clinical testing
GeneDx	RCV000079473	SCV000523010	benign	not specified	2016-01-15	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.
Athena Diagnostics	RCV000712007	SCV000842420	benign	not provided	2017-11-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311573	SCV000845882	likely benign	Inborn genetic diseases	2016-03-13	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001518714	SCV001727460	benign	Intellectual disability, X-linked 1	2024-02-01	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000712007	SCV005210480	likely benign	not provided		criteria provided, single submitter	not provided