Submissions for variant NM_198994.3(TGM6):c.502G>A (p.Val168Met)

gnomAD frequency: 0.00175  dbSNP: rs147494925

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics Inc	RCV000517246	SCV000615795	benign	not specified	2016-12-08	criteria provided, single submitter	clinical testing
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital	RCV000517246	SCV000864271	likely benign	not specified	2017-10-19	criteria provided, single submitter	clinical testing	BS1, BP4; This alteration has an allele frequency that is greater than expected for the associated disease, and is predicted to be tolerated by multiple functional prediction tools.
Invitae	RCV000921897	SCV001067312	benign	not provided	2023-07-07	criteria provided, single submitter	clinical testing
GeneDx	RCV000921897	SCV001987383	benign	not provided	2021-10-26	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000921897	SCV004149766	likely benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	TGM6: BS2
PreventionGenetics, part of Exact Sciences	RCV003962441	SCV004778124	benign	TGM6-related condition	2020-07-01	criteria provided, single submitter	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).