Submissions for variant NM_001160372.4(TRAPPC9):c.411C>T (p.Asn137=)

gnomAD frequency: 0.45974  dbSNP: rs3735803

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000118685	SCV000314803	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000334004	SCV000472215	benign	Intellectual Disability, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312528	SCV000846074	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	RCV001511978	SCV001719307	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001511978	SCV001871601	benign	not provided	2018-07-07	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001838551	SCV002098713	benign	Intellectual disability, autosomal recessive 13	2021-09-10	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001511978	SCV005271552	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000118685	SCV000153099	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.