Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000290420 | SCV000470869 | uncertain significance | Cohen syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000290420 | SCV001098097 | likely benign | Cohen syndrome | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000290420 | SCV001653369 | uncertain significance | Cohen syndrome | 2021-05-18 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003922610 | SCV004746746 | likely benign | VPS13B-related disorder | 2019-11-27 | 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, |
RCV000290420 | SCV001456508 | likely benign | Cohen syndrome | 2020-06-22 | no assertion criteria provided | clinical testing |