Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155395 | SCV000205082 | benign | not specified | 2012-05-07 | criteria provided, single submitter | clinical testing | 273+12G>T in Intron 05 of TJP2: This variant is not expected to have clinical si gnificance because it is not located within the conserved splice consensus seque nce and has been identified in 5.6% (210/3738) of African American chromosomes f rom a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.wash ington.edu/EVS; dbSNP rs7027812). |
Prevention |
RCV000155395 | SCV000310688 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000834388 | SCV000976157 | benign | not provided | 2018-06-16 | 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. |
Invitae | RCV000834388 | SCV002470390 | benign | not provided | 2024-01-30 | criteria provided, single submitter | clinical testing |