Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000175319 | SCV000226790 | uncertain significance | not provided | 2015-04-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000175319 | SCV002378187 | likely benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003133161 | SCV003814771 | uncertain significance | Microcephalic osteodysplastic primordial dwarfism type II | 2020-06-24 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003907566 | SCV004719730 | likely benign | PCNT-related condition | 2021-07-08 | 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). |