Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000835975 | SCV000977800 | likely benign | not provided | 2018-06-18 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Breakthrough Genomics, |
RCV000835975 | SCV005214636 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Clinical Genetics Laboratory, |
RCV001692290 | SCV001906118 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001692290 | SCV001954417 | benign | not specified | no assertion criteria provided | clinical testing |