Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000250923 | SCV000306660 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Personalized Diabetes Medicine Program, |
RCV000445370 | SCV000537085 | benign | Monogenic diabetes | 2019-01-25 | criteria provided, single submitter | research | ACMG criteria: BA1 (14% in Africans, seen in previous cases, similar freq in Today/1000g), BS2 (22 homozygotes in ExAC)= benign (REVEL 0.224 and 7 predictors/BP4: conflicing evidence, not using) |
Athena Diagnostics | RCV000250923 | SCV000612494 | benign | not specified | 2017-07-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001597005 | SCV001832186 | benign | not provided | 2018-08-03 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV001597005 | SCV005316741 | benign | not provided | criteria provided, single submitter | not provided | ||
Clinical Genetics, |
RCV000250923 | SCV002034715 | benign | not specified | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV001597005 | SCV002035482 | likely benign | not provided | no assertion criteria provided | clinical testing |