Submissions for variant NM_001160372.4(TRAPPC9):c.555G>A (p.Lys185=)

gnomAD frequency: 0.08881  dbSNP: rs57593250

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000300177	SCV000472212	likely benign	Intellectual Disability, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312530	SCV000846195	benign	Inborn genetic diseases	2016-04-14	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.
Invitae	RCV001515963	SCV001724152	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001515963	SCV001849990	benign	not provided	2018-07-09	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000118688	SCV000153102	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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000118688	SCV001739617	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000118688	SCV001953595	benign	not specified		no assertion criteria provided	clinical testing