Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Breakthrough Genomics, |
RCV001724342 | SCV005263016 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Diagnostic Laboratory, |
RCV001529599 | SCV001743307 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001724342 | SCV001958106 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Prevention |
RCV003921187 | SCV004731601 | benign | THPO-related disorder | 2019-06-26 | no assertion criteria provided | 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). |