Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000960657 | SCV001107665 | benign | Intellectual disability, X-linked 1 | 2024-01-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001675974 | SCV001895704 | benign | not provided | 2021-04-27 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003960708 | SCV004767749 | benign | IQSEC2-related condition | 2021-10-27 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |