Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Preventiongenetics, |
RCV000117895 | SCV000311405 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000338737 | SCV000466605 | likely benign | Maturity onset diabetes mellitus in young | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001682819 | SCV001905065 | benign | not provided | 2018-09-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001682819 | SCV002402601 | benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000117895 | SCV000152168 | likely benign | not specified | no assertion criteria provided | clinical testing | Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed. |