Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001811470 | SCV000884895 | likely benign | not provided | 2019-07-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001473684 | SCV001677838 | likely benign | Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004540079 | SCV004779015 | likely benign | WDR19-related disorder | 2019-12-20 | 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). |