Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000500187 | SCV000594523 | likely benign | not specified | 2017-12-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001857093 | SCV002297045 | benign | Kleefstra syndrome 1 | 2022-08-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV002060111 | SCV002498085 | uncertain significance | not provided | 2022-03-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003403164 | SCV004111749 | uncertain significance | EHMT1-related condition | 2023-08-16 | criteria provided, single submitter | clinical testing | The EHMT1 c.2755G>A variant is predicted to result in the amino acid substitution p.Val919Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0018% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/9-140705955-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |