Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000192440 | SCV000248719 | uncertain significance | not specified | 2013-12-27 | criteria provided, single submitter | clinical testing | |
Personalized Diabetes Medicine Program, |
RCV000445479 | SCV000537029 | likely benign | Monogenic diabetes | 2016-09-09 | criteria provided, single submitter | research | ACMG Criteria: PP3, BP4, BP5 |
Labcorp Genetics |
RCV001795312 | SCV002405827 | benign | not provided | 2023-09-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001795312 | SCV002575804 | uncertain significance | not provided | 2022-03-23 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Laboratory of Diagnostic Genome Analysis, |
RCV001795312 | SCV002037086 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001795312 | SCV002037741 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Prevention |
RCV003907704 | SCV004722870 | likely benign | RFX6-related disorder | 2019-04-01 | 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). |