Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000145480 | SCV000167636 | benign | not specified | 2013-12-18 | 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. |
Genetic Services Laboratory, |
RCV000145480 | SCV000192565 | benign | not specified | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Preventiongenetics, |
RCV000145480 | SCV000313212 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000316695 | SCV000476924 | likely benign | Primary Microcephaly, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002055451 | SCV002394527 | benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000145480 | SCV001953812 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000145480 | SCV001969489 | benign | not specified | no assertion criteria provided | clinical testing |