Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000409836 | SCV000485603 | likely pathogenic | Hyperinsulinemic hypoglycemia, familial, 1 | 2016-01-12 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001380090 | SCV001578035 | pathogenic | not provided | 2020-12-20 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with ABCC8-related conditions. ClinVar contains an entry for this variant (Variation ID: 370329). This sequence change creates a premature translational stop signal (p.Trp1451*) in the ABCC8 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ABCC8 are known to be pathogenic (PMID: 20685672, 23345197). |
Genetic Services Laboratory, |
RCV001380090 | SCV002065880 | pathogenic | not provided | 2021-09-23 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002244843 | SCV002513323 | uncertain risk allele | Maturity onset diabetes mellitus in young | 2024-05-27 | criteria provided, single submitter | research | This variant is found to be a potent moderate impact variant with a CADD score of 44 and sufficient scientific evidence of gene-disease correlation. However, since this is not a high impact variant and no sufficient variant evidence is found, this variant is classified as Uncertain Risk Allele only. |
Clinical Genomics, |
RCV004556782 | SCV002513324 | uncertain risk allele | Neonatal diabetes mellitus | 2024-05-27 | criteria provided, single submitter | research | This variant is found to be a potent moderate impact variant with a CADD score of 44 and sufficient scientific evidence of gene-disease correlation. However, since this is not a high impact variant and no sufficient variant evidence is found, this variant is classified as Uncertain Risk Allele only. |
Baylor Genetics | RCV003475943 | SCV004203245 | likely pathogenic | Type 2 diabetes mellitus | 2024-02-14 | criteria provided, single submitter | clinical testing |