Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037076 | SCV000060732 | benign | not specified | 2012-04-30 | criteria provided, single submitter | clinical testing | Gln105Lys in Exon 06 of TJP2: This variant is not expected to have clinical sign ificance because it has been identified in 30.0% (1119/3736) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs41305539). |
Preventiongenetics, |
RCV000037076 | SCV000310690 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Eurofins Ntd Llc |
RCV000037076 | SCV000339738 | benign | not specified | 2017-11-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000037076 | SCV000717169 | benign | not specified | 2017-08-03 | 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 | RCV002054637 | SCV002405753 | benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing |