Submissions for variant NM_001160372.4(TRAPPC9):c.3411C>A (p.Pro1137=)

gnomAD frequency: 0.00022  dbSNP: rs373979305

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000377332	SCV000472162	uncertain significance	Intellectual Disability, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000504491	SCV000597535	uncertain significance	not specified	2016-12-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314083	SCV000848015	likely benign	Inborn genetic diseases	2018-01-18	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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	RCV002058704	SCV002459925	likely benign	not provided	2024-01-20	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003922622	SCV004744726	likely benign	TRAPPC9-related disorder	2022-05-10	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).