Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002569576 | SCV002929785 | benign | not provided | 2023-12-04 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV003111579 | SCV003799824 | likely benign | Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | 2022-11-28 | criteria provided, single submitter | clinical testing | |
Ce |
RCV002569576 | SCV004165932 | likely benign | not provided | 2024-10-01 | criteria provided, single submitter | clinical testing | PGK1: BP4, BP7, BS2 |
Prevention |
RCV004548311 | SCV004738172 | likely benign | PGK1-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). |