Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000877874 | SCV001020679 | likely benign | Anterior segment dysgenesis 7 | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001593117 | SCV001824907 | likely benign | not provided | 2019-09-11 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001593117 | SCV002822610 | uncertain significance | not provided | 2022-12-01 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV001593117 | SCV001917004 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001593117 | SCV001976129 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Prevention |
RCV003908351 | SCV004722391 | likely benign | PXDN-related disorder | 2020-07-06 | 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). |