Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002235920 | SCV001014863 | benign | Chondrodysplasia punctata, brachytelephalangic, autosomal | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003930402 | SCV004741259 | benign | ARSL-related condition | 2019-10-28 | 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). |