Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000365469 | SCV000451403 | benign | Hyaline fibromatosis syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001696213 | SCV001916485 | benign | not provided | 2019-09-04 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000365469 | SCV002807233 | benign | Hyaline fibromatosis syndrome | 2021-09-16 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003972477 | SCV004799158 | likely benign | ANTXR2-related disorder | 2019-09-20 | 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). |