Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001474594 | SCV001678765 | likely benign | Luscan-Lumish syndrome | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001647297 | SCV001861196 | benign | not provided | 2021-05-26 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001474594 | SCV002555530 | benign | Luscan-Lumish syndrome | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004533829 | SCV004735531 | likely benign | SETD2-related disorder | 2024-01-21 | 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). |