Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000393658 | SCV000369903 | uncertain significance | Autosomal recessive DOPA responsive dystonia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000263719 | SCV000483266 | likely benign | Transient Neonatal Diabetes, Dominant/Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000318900 | SCV000483267 | likely benign | Maturity onset diabetes mellitus in young | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001544723 | SCV001763906 | likely benign | not provided | 2020-09-21 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002464168 | SCV002605399 | benign | Neonatal insulin-dependent diabetes mellitus | criteria provided, single submitter | research | Mutations in INS gene can cause early onset diabetes mellitus which is insulin dependent. May have poor response to sulfonylureas, as this mutation can cause beta cell destruction. However no sufficient evidence is found to ascertain the role of this particular variant rs3842725, yet. |