Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000873490 | SCV001015486 | likely benign | Cohen syndrome | 2024-01-07 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003975454 | SCV004793357 | likely benign | VPS13B-related disorder | 2021-12-29 | 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). |
Natera, |
RCV000873490 | SCV001461443 | uncertain significance | Cohen syndrome | 2020-01-24 | no assertion criteria provided | clinical testing |