Submissions for variant NM_001160372.4(TRAPPC9):c.2292C>T (p.Gly764=)

gnomAD frequency: 0.10684  dbSNP: rs11166965

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000118671	SCV000314798	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000347198	SCV000472187	benign	Intellectual Disability, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312519	SCV000846165	benign	Inborn genetic diseases	2016-03-11	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.
Invitae	RCV001510553	SCV001717622	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001510553	SCV001894915	benign	not provided	2018-07-09	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000118671	SCV000153085	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.