Submissions for variant NM_004817.4(TJP2):c.2636A>G (p.Gln879Arg)

gnomAD frequency: 0.00273  dbSNP: rs75450131

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000152025	SCV000200600	benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	Gln856Arg in Exon 19 of TJP2: This variant is not expected to have clinical sign ificance because it has been identified in 0.7% (28/3738) of African American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS; dbSNP rs75450131).
Eurofins Ntd Llc (ga)	RCV000152025	SCV000226785	benign	not specified	2015-02-23	criteria provided, single submitter	clinical testing
Invitae	RCV000900846	SCV001045189	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000900846	SCV001745796	likely benign	not provided	2020-11-19	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000900846	SCV002540995	uncertain significance	not provided	2023-04-19	criteria provided, single submitter	clinical testing	BS1
PreventionGenetics, part of Exact Sciences	RCV003927468	SCV004737745	benign	TJP2-related condition	2023-10-09	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).