Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155439 | SCV000205129 | likely benign | not specified | 2014-06-03 | criteria provided, single submitter | clinical testing | Ala1021Ala in Exon 21A of TJP2: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 2/8600 European Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS). |
Eurofins Ntd Llc |
RCV000727384 | SCV000708062 | uncertain significance | not provided | 2017-04-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000727384 | SCV002384575 | likely benign | not provided | 2022-11-15 | criteria provided, single submitter | clinical testing |