Submissions for variant NM_001160372.4(TRAPPC9):c.588T>C (p.His196=)

gnomAD frequency: 0.00284  dbSNP: rs61736350

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000194824	SCV000249199	uncertain significance	not specified	2015-02-04	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000356435	SCV000472210	uncertain significance	Intellectual Disability, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002315516	SCV000848128	likely benign	Inborn genetic diseases	2016-06-01	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	RCV000899688	SCV001043973	benign	not provided	2024-01-24	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000899688	SCV004163304	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	TRAPPC9: BP4, BP7