Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000903445 | SCV001047912 | likely benign | Lysinuric protein intolerance | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002264071 | SCV002542954 | likely benign | Autoinflammatory syndrome | 2021-06-22 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000903445 | SCV002803717 | likely benign | Lysinuric protein intolerance | 2021-07-28 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003968280 | SCV004795030 | likely benign | SLC7A7-related disorder | 2019-03-18 | 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). |
Natera, |
RCV000903445 | SCV001459970 | likely benign | Lysinuric protein intolerance | 2020-09-16 | no assertion criteria provided | clinical testing |