Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000597850 | SCV000705469 | uncertain significance | not provided | 2017-02-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000597850 | SCV001040083 | likely benign | not provided | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000597850 | SCV001766394 | likely benign | not provided | 2020-06-18 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge |
ARUP Laboratories, |
RCV003117363 | SCV003800583 | likely benign | Maturity-onset diabetes of the young type 11 | 2023-09-22 | criteria provided, single submitter | clinical testing |