Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV001288415 | SCV001475497 | uncertain significance | not provided | 2020-08-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001288415 | SCV001662209 | likely benign | not provided | 2023-09-15 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002267098 | SCV002522337 | 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 ( rs1955709311) in MODY yet. | |
Clinical Genomics, |
RCV002267099 | SCV002522338 | 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 ( rs1955709311) in neonatal diabetes yet. |