Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002235919 | SCV001014784 | benign | Chondrodysplasia punctata, brachytelephalangic, autosomal | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001672974 | SCV001890333 | benign | not provided | 2021-01-18 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003908288 | SCV004721841 | benign | ARSL-related condition | 2019-07-29 | 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). |