Submissions for variant NM_001160372.4(TRAPPC9):c.3136C>T (p.Arg1046Trp)

gnomAD frequency: 0.00015  dbSNP: rs376617920

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000271805	SCV000472171	uncertain significance	Intellectual Disability, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000500118	SCV000597544	uncertain significance	not specified	2016-05-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000914028	SCV001059187	likely benign	not provided	2024-09-24	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV001336733	SCV001530199	uncertain significance	Intellectual disability, autosomal recessive 13	2018-09-28	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx	RCV000914028	SCV001994700	uncertain significance	not provided	2021-12-07	criteria provided, single submitter	clinical testing	In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics	RCV002523637	SCV003687705	likely benign	Inborn genetic diseases	2021-12-15	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.