Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002115992 | SCV002405869 | benign | not provided | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV003225762 | SCV003807761 | uncertain significance | Congenital diarrhea 7 with exudative enteropathy | 2022-04-22 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PM2 moderated |
Prevention |
RCV003958740 | SCV004773724 | likely benign | DGAT1-related disorder | 2019-04-01 | criteria provided, single submitter | 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). |