Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000926623 | SCV001072186 | likely benign | not provided | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002254181 | SCV002524071 | 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 ( rs574487898) in MODY yet. | |
Clinical Genomics, |
RCV002254182 | SCV002524072 | 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 ( rs574487898) in neonatal diabetes yet. | |
Prevention |
RCV003411894 | SCV004106275 | uncertain significance | ABCC8-related condition | 2022-09-23 | criteria provided, single submitter | clinical testing | The ABCC8 c.487G>A variant is predicted to result in the amino acid substitution p.Gly163Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.16% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/11-17485077-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Natera, |
RCV001276287 | SCV001462396 | uncertain significance | Hereditary hyperinsulinism | 2020-01-24 | no assertion criteria provided | clinical testing |