Submissions for variant NM_001160372.4(TRAPPC9):c.1869C>T (p.Ser623=)

gnomAD frequency: 0.01001  dbSNP: rs117685875

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000118670	SCV000153084	benign	not specified	2013-07-08	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000359487	SCV000472193	uncertain significance	Intellectual Disability, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312518	SCV000846321	benign	Inborn genetic diseases	2016-05-03	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000969954	SCV001117506	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000969954	SCV001824735	likely benign	not provided	2021-01-04	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003975055	SCV004798285	benign	TRAPPC9-related disorder	2019-06-05	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).