Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000145471 | SCV000167635 | benign | not specified | 2014-04-28 | 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, |
RCV000145471 | SCV000192556 | benign | not specified | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000145471 | SCV000313211 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000285028 | SCV000476929 | likely benign | Primary Microcephaly, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002054458 | SCV002324660 | benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000020836 | SCV000041423 | not provided | Microcephaly 3, primary, autosomal recessive | no assertion provided | literature only | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000145471 | SCV001955312 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000145471 | SCV001970307 | benign | not specified | no assertion criteria provided | clinical testing |