Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037066 | SCV000060722 | benign | not specified | 2012-05-07 | criteria provided, single submitter | clinical testing | "Leu356Leu in Exon 08 of TJP2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 14.1% (528/3738) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs17062695)." |
Prevention |
RCV000037066 | SCV000310665 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000037066 | SCV000717100 | benign | not specified | 2017-05-09 | 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 | RCV002054635 | SCV002405875 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing |