Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000886491 | SCV001030000 | likely benign | Cohen syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003910486 | SCV004720993 | likely benign | VPS13B-related disorder | 2021-05-26 | 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, |
RCV000886491 | SCV001460398 | likely benign | Cohen syndrome | 2020-06-14 | no assertion criteria provided | clinical testing |