Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000641062 | SCV000365710 | likely benign | Hyperinsulinism-hyperammonemia syndrome | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Invitae | RCV000641062 | SCV000762680 | benign | Hyperinsulinism-hyperammonemia syndrome | 2023-11-18 | criteria provided, single submitter | clinical testing | |
Personalized Diabetes Medicine Program, |
RCV000664134 | SCV000787586 | likely benign | Monogenic diabetes | 2017-05-22 | criteria provided, single submitter | research | ACMG Criteria:PP3 (5 predictors), BP4 (5 predictors), BS2 (31 cases and 36 controls in type2diabetesgenetics.org) |
Gene |
RCV001660585 | SCV001871931 | benign | not provided | 2019-07-22 | criteria provided, single submitter | clinical testing |