Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000217285 | SCV000269926 | benign | not specified | 2014-11-24 | criteria provided, single submitter | clinical testing | Arg57Gln in exon 2 of TSPEAR: This variant is not expected to have clinical sign ificance because it has been identified in 0.6% (26/4406) of African American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS; dbSNP rs151001222). |
Invitae | RCV000974664 | SCV001122499 | likely benign | not provided | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000974664 | SCV001146260 | likely benign | not provided | 2019-02-22 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000974664 | SCV001153571 | uncertain significance | not provided | 2016-06-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000974664 | SCV001829218 | benign | not provided | 2018-09-28 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003937815 | SCV004753741 | likely benign | TSPEAR-related condition | 2020-07-01 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |