Submissions for variant NM_001160372.4(TRAPPC9):c.288T>C (p.Phe96=)

gnomAD frequency: 0.55845  dbSNP: rs3735802

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000118681	SCV000314802	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000384914	SCV000472219	benign	Intellectual Disability, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312525	SCV000846102	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: 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	RCV001511979	SCV001719308	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001511979	SCV001867853	benign	not provided	2018-07-07	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001838550	SCV002098715	benign	Intellectual disability, autosomal recessive 13	2021-09-10	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001511979	SCV005271554	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000118681	SCV000153095	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	RCV000118681	SCV001741237	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000118681	SCV001952092	benign	not specified		no assertion criteria provided	clinical testing