Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Fulgent Genetics, |
RCV000786908 | SCV002799869 | likely pathogenic | Immunoglobulin-mediated membranoproliferative glomerulonephritis | 2021-07-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003396363 | SCV004103260 | likely pathogenic | DGKE-related condition | 2023-05-11 | criteria provided, single submitter | clinical testing | The DGKE c.1442dupG variant is predicted to result in a frameshift and premature protein termination (p.Val482Serfs*16). To our knowledge, this variant is not reported in the literature. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/17-54939528-T-TG). Frameshift variants in DGKE are expected to be pathogenic. This variant is interpreted as likely pathogenic. |
Bioscientia Institut fuer Medizinische Diagnostik Gmb |
RCV000786908 | SCV000925809 | likely pathogenic | Immunoglobulin-mediated membranoproliferative glomerulonephritis | 2018-12-03 | no assertion criteria provided | clinical testing |