Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000922224 | SCV001067649 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001818873 | SCV002066568 | uncertain significance | not specified | 2020-05-20 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002245739 | SCV002512158 | uncertain significance | Transitory neonatal diabetes mellitus | criteria provided, single submitter | research | Mutations in ABCC8 gene are associated with both neonatal diabetes mellitus as well as MODY. Patients with this mutation may have a better response to sulfonylureas. However, no sufficient evidence is found to ascertain the role of this particular variant (rs145386421 ) in neonatal diabetes yet. | |
Clinical Genomics, |
RCV002245738 | SCV002512159 | uncertain significance | Maturity onset diabetes mellitus in young | criteria provided, single submitter | research | Mutations in ABCC8 gene are associated with both neonatal diabetes mellitus as well as MODY. Patients with this mutation may have a better response to sulfonylureas. However, no sufficient evidence is found to ascertain the role of this particular variant ( rs145386421 ) in MODY yet. | |
Ambry Genetics | RCV002332889 | SCV002633711 | likely benign | Inborn genetic diseases | 2022-06-22 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Natera, |
RCV001274285 | SCV001458257 | uncertain significance | Hereditary hyperinsulinism | 2020-04-10 | no assertion criteria provided | clinical testing |