Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001502315 | SCV001707144 | likely benign | Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 | 2020-08-21 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004540460 | SCV004760320 | likely benign | WDR19-related disorder | 2019-04-10 | 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). |