Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036825 | SCV000060480 | benign | not specified | 2012-04-30 | criteria provided, single submitter | clinical testing | Thr1684Thr in Exon 09 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 1.0% (67/6622) of E uropean American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs41283241). |
Gene |
RCV001697029 | SCV000717845 | benign | not provided | 2018-08-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001697029 | SCV002422207 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001697029 | SCV004147864 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | TRIOBP: BP4, BP7, BS1, BS2 |