Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001585407 | SCV001819307 | likely benign | not provided | 2021-03-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001585407 | SCV002416491 | benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003921251 | SCV004736273 | benign | ERCC1-related condition | 2019-07-15 | 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). |