Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000038252 | SCV000061920 | benign | not specified | 2012-11-20 | criteria provided, single submitter | clinical testing | Ser1010Phe in exon 21A of TJP2: This variant is not expected to have clinical si gnificance because it has been identified in 7.8% (673/8600) of European America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS/; dbSNP rs41277907) |
Prevention |
RCV000038252 | SCV000310686 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000038252 | SCV000717042 | benign | not specified | 2017-08-24 | 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 | RCV002054694 | SCV002444337 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing |