Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000638299 | SCV000759793 | likely benign | Non-ketotic hyperglycinemia | 2021-02-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001619817 | SCV001843379 | benign | not provided | 2021-05-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003918024 | SCV004731231 | benign | GCSH-related condition | 2019-04-05 | 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). |
Genome Diagnostics Laboratory, |
RCV001703219 | SCV001927801 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001703219 | SCV001972455 | benign | not specified | no assertion criteria provided | clinical testing |