Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000176230 | SCV000227847 | uncertain significance | not provided | 2014-06-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001078879 | SCV001097255 | benign | Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004539633 | SCV004770881 | likely benign | WDR19-related disorder | 2022-10-07 | 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). |