Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037082 | SCV000060739 | benign | not specified | 2012-11-29 | criteria provided, single submitter | clinical testing | Ala909Ala in exon 19E 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 it has been identified in 21% (1812/8600) of European American chromosomes and 17% (755/4406) of African American chromosome s from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.w ashington.edu/EVS/; dbSNP rs2095876) |
Prevention |
RCV000037082 | SCV000310680 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Eurofins Ntd Llc |
RCV000037082 | SCV000702961 | benign | not specified | 2016-11-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000037082 | SCV000717102 | 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. |
Genome- |
RCV001838542 | SCV002098469 | benign | Cholestasis, progressive familial intrahepatic, 4 | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001838541 | SCV002098471 | benign | Hypercholanemia, familial 1 | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002054639 | SCV002348993 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing |