Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Personalized Diabetes Medicine Program, |
RCV000445463 | SCV000537069 | uncertain significance | Monogenic diabetes | 2015-10-16 | criteria provided, single submitter | research | ACMG Criteria: PP3, BP4 |
Invitae | RCV000909273 | SCV001054070 | likely benign | not provided | 2023-02-14 | criteria provided, single submitter | clinical testing | |
New York Genome Center | RCV002467799 | SCV002764590 | uncertain significance | Congenital generalized lipodystrophy type 1 | 2021-04-09 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002467799 | SCV004698162 | uncertain significance | Congenital generalized lipodystrophy type 1 | criteria provided, single submitter | research | Potent mutations in AGPAT2 gene are associated with Congenital generalized lipodystrophy, type 1, which can present with insulin resistance, fatty liver and diabetes. However, the role of this particular variant rs142248792 in Congenital generalized lipodystrophy is yet to be ascertained. |