Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000147186 | SCV000194552 | uncertain significance | Microcephalic osteodysplastic primordial dwarfism type II | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002055915 | SCV002400134 | likely benign | not provided | 2024-01-10 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003917452 | SCV004729709 | likely benign | PCNT-related condition | 2023-01-15 | 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). |