Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037073 | SCV000060729 | benign | not specified | 2012-05-07 | criteria provided, single submitter | clinical testing | "Ser76Ser in Exon 05 of TJP2: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 1.6% (115/7020) of Eur opean American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs72709079)." |
Prevention |
RCV000037073 | SCV000310684 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000951099 | SCV000717852 | benign | not provided | 2018-05-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000951099 | SCV001097464 | benign | not provided | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000951099 | SCV001146190 | benign | not provided | 2018-12-29 | criteria provided, single submitter | clinical testing |