Submissions for variant NM_001160372.4(TRAPPC9):c.2797G>A (p.Gly933Ser)

gnomAD frequency: 0.00641  dbSNP: rs114949291

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224718	SCV000280745	likely benign	not provided	2015-08-26	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Illumina Laboratory Services, Illumina	RCV000376511	SCV000472176	uncertain significance	Intellectual Disability, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312520	SCV000846745	benign	Inborn genetic diseases	2016-10-03	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.
GeneDx	RCV000224718	SCV001794221	likely benign	not provided	2022-11-14	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000224718	SCV002324683	benign	not provided	2024-01-30	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000118675	SCV000153089	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.