Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001080140 | SCV000290443 | likely benign | Combined oxidative phosphorylation defect type 17 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000676447 | SCV000527980 | likely benign | not provided | 2020-12-15 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV003316293 | SCV004017446 | likely benign | Prostate cancer, hereditary, 2 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003929992 | SCV004738124 | benign | ELAC2-related condition | 2019-09-25 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Mayo Clinic Laboratories, |
RCV000676447 | SCV000802228 | uncertain significance | not provided | 2016-02-29 | no assertion criteria provided | clinical testing |