Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001513614 | SCV001721261 | benign | Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002506604 | SCV002807565 | likely benign | Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 | 2021-09-16 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004533926 | SCV004718756 | likely benign | WDR19-related disorder | 2019-06-12 | 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). |