Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000221357 | SCV000269930 | benign | not specified | 2014-11-24 | criteria provided, single submitter | clinical testing | Gly17Gly in exon 1 of TSPEAR: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 2.0% (89/4402) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs75351275). |
Gene |
RCV000840105 | SCV000982021 | benign | not provided | 2019-08-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000840105 | SCV001030756 | benign | not provided | 2023-12-22 | criteria provided, single submitter | clinical testing |