Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001825767 | SCV001017978 | likely benign | Pontocerebellar hypoplasia type 1A | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003955730 | SCV004767409 | likely benign | VRK1-related disorder | 2019-07-15 | 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). |
Clinical Genetics, |
RCV001729729 | SCV001979207 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001729729 | SCV001980278 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Natera, |
RCV001825767 | SCV002093702 | likely benign | Pontocerebellar hypoplasia type 1A | 2020-02-13 | no assertion criteria provided | clinical testing |