Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000394361 | SCV000466629 | likely benign | Obesity due to congenital leptin deficiency | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000306659 | SCV000466630 | likely benign | Monogenic Non-Syndromic Obesity | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Personalized Diabetes Medicine Program, |
RCV000445399 | SCV000537048 | benign | Monogenic diabetes | 2019-01-25 | criteria provided, single submitter | research | ACMG criteria: BA1 (8.5% in Africans in gnomAD), BS2 (104 homo in gnomAD, 191 cases and 210 controls in T2DM), BP4 (9 predictors, Revel score 0.168)=benign |
Invitae | RCV000947067 | SCV001093232 | benign | not provided | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000947067 | SCV001839042 | benign | not provided | 2018-12-24 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 32917775) |