Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000503254 | SCV000594507 | likely benign | not specified | 2016-07-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000638419 | SCV000759933 | likely benign | Kleefstra syndrome 1 | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV000638419 | SCV001367195 | likely benign | Kleefstra syndrome 1 | 2019-03-01 | criteria provided, single submitter | clinical testing | This variant was classified as: Likely benign. The following ACMG criteria were applied in classifying this variant: BP4,BP6. |
Prevention |
RCV003942630 | SCV004760804 | likely benign | EHMT1-related condition | 2019-11-21 | 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). |