Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular 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 |
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 | |
Gene |
RCV000900846 | SCV001745796 | likely benign | not provided | 2020-11-19 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000900846 | SCV002540995 | uncertain significance | not provided | 2023-04-19 | criteria provided, single submitter | clinical testing | BS1 |
Prevention |
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). |