Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037068 | SCV000060724 | benign | not specified | 2012-05-07 | criteria provided, single submitter | clinical testing | Arg470Lys in Exon 11 of TJP2: This variant is not expected to have clinical sign ificance because it has been identified in 3.6% (134/3738) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs41277901). |
Gene |
RCV000037068 | SCV000726372 | benign | not specified | 2018-02-22 | 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 | RCV000880873 | SCV001023997 | benign | not provided | 2024-01-30 | criteria provided, single submitter | clinical testing |