Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000299191 | SCV000428193 | uncertain significance | Alport syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000614849 | SCV000727938 | likely benign | not specified | 2018-03-13 | 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. |
Laboratory for Molecular Medicine, |
RCV000614849 | SCV000966408 | likely benign | not specified | 2017-08-23 | criteria provided, single submitter | clinical testing | p.Thr1498Thr in exon 49 of COL4A3: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.09% (63/66720 ) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac .broadinstitute.org; dbSNP rs200454769). |
Invitae | RCV000920677 | SCV001066054 | likely benign | not provided | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000920677 | SCV001143224 | likely benign | not provided | 2019-03-11 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000299191 | SCV001456041 | likely benign | Alport syndrome | 2020-09-16 | no assertion criteria provided | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000920677 | SCV001932607 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000920677 | SCV001954005 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000920677 | SCV001976046 | likely benign | not provided | no assertion criteria provided | clinical testing |