Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000919958 | SCV001065315 | likely benign | not provided | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002245735 | SCV002513437 | 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 (rs146584228) in neonatal diabetes yet. | |
Clinical Genomics, |
RCV002245734 | SCV002513438 | 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 (rs146584228) in MODY yet. | |
Ambry Genetics | RCV002332884 | SCV002632782 | likely benign | Inborn genetic diseases | 2022-04-29 | 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. |
Prevention |
RCV003933096 | SCV004754191 | likely benign | ABCC8-related condition | 2019-06-07 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Natera, |
RCV001274289 | SCV001458261 | uncertain significance | Hereditary hyperinsulinism | 2020-04-10 | no assertion criteria provided | clinical testing |