Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036831 | SCV000060486 | benign | not specified | 2012-04-30 | criteria provided, single submitter | clinical testing | Pro2045Pro in Exon 16 of TRIOBP: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 1.5% (57/3692) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs11546529). |
Gene |
RCV000969750 | SCV000727789 | benign | not provided | 2020-06-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000969750 | SCV001117281 | benign | not provided | 2024-01-16 | criteria provided, single submitter | clinical testing |