Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001468514 | SCV001672568 | likely benign | Cohen syndrome | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003434254 | SCV004158286 | likely benign | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | VPS13B: BP4, BP7 |
Prevention |
RCV003900617 | SCV004712556 | 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, |
RCV001468514 | SCV002082808 | likely benign | Cohen syndrome | 2021-07-29 | no assertion criteria provided | clinical testing |