Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000928907 | SCV001074529 | likely benign | not provided | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002267042 | SCV002522367 | 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 (rs565996783) in MODY yet. | |
Clinical Genomics, |
RCV002267043 | SCV002522368 | 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 (rs565996783) in neonatal diabetes yet. | |
Ambry Genetics | RCV003307705 | SCV003997095 | likely benign | Inborn genetic diseases | 2023-05-05 | 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, |
RCV001274303 | SCV001458275 | uncertain significance | Hereditary hyperinsulinism | 2020-01-24 | no assertion criteria provided | clinical testing |