Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000154655 | SCV000204331 | likely benign | not specified | 2015-05-19 | criteria provided, single submitter | clinical testing | p.Ala1863Val in exon 15 of TRIOBP: This variant is not expected to have clinical significance because it has been identified in 0.33% (220/66206) of European ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs140528529). |
Eurofins Ntd Llc |
RCV000154655 | SCV000855390 | likely benign | not specified | 2017-07-03 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000969975 | SCV001117527 | benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000969975 | SCV001146241 | likely benign | not provided | 2019-07-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000969975 | SCV001828703 | benign | not provided | 2018-12-18 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000969975 | SCV004147867 | likely benign | not provided | 2024-03-01 | criteria provided, single submitter | clinical testing | TRIOBP: BS2 |
Breakthrough Genomics, |
RCV000969975 | SCV005206436 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Prevention |
RCV003937443 | SCV004760900 | likely benign | TRIOBP-related disorder | 2020-01-10 | no assertion criteria provided | 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). |
Center for Computational Biology & Bioinformatics, |
RCV004567177 | SCV005049932 | uncertain significance | Meniere disease | 2024-06-03 | no assertion criteria provided | research |