Submissions for variant NM_004817.4(TJP2):c.2715C>T (p.Thr905=)

gnomAD frequency: 0.22650  dbSNP: rs2282336

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037081	SCV000060738	benign	not specified	2012-11-29	criteria provided, single submitter	clinical testing	Thr905Thr in exons 19E of TJP2: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, has been identified in 21% (1815/8600) of Europ ean American chromosomes and 17% (754/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washing ton.edu/EVS/; dbSNP rs2282336)
PreventionGenetics, part of Exact Sciences	RCV000037081	SCV000310679	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000037081	SCV000702960	benign	not specified	2016-11-07	criteria provided, single submitter	clinical testing
GeneDx	RCV000037081	SCV000717101	benign	not specified	2017-05-09	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab	RCV001838540	SCV002098467	benign	Cholestasis, progressive familial intrahepatic, 4	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001838539	SCV002098468	benign	Hypercholanemia, familial 1	2021-09-10	criteria provided, single submitter	clinical testing
Invitae	RCV002054638	SCV002348990	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing