Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000556656 | SCV000655731 | likely benign | Luscan-Lumish syndrome | 2023-08-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001529297 | SCV001756841 | benign | not provided | 2018-11-20 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000556656 | SCV002553669 | benign | Luscan-Lumish syndrome | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001529297 | SCV004154380 | benign | not provided | 2022-10-01 | criteria provided, single submitter | clinical testing | SETD2: BS1, BS2 |
Prevention |
RCV003925207 | SCV004739976 | likely benign | SETD2-related condition | 2022-09-01 | 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). |
ITMI | RCV000122029 | SCV000086240 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
Diagnostic Laboratory, |
RCV001529297 | SCV001742512 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV001529297 | SCV001799839 | likely benign | not provided | no assertion criteria provided | clinical testing |