Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000213698 | SCV000269931 | benign | not specified | 2014-11-24 | criteria provided, single submitter | clinical testing | Pro178Pro in exon 3 of TSPEAR: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 2.4% (104/4358) of African American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs148713881). |
Gene |
RCV000967577 | SCV000725935 | benign | not provided | 2018-08-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000967577 | SCV001114966 | benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing |