Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000605668 | SCV000711807 | benign | not specified | 2016-03-21 | criteria provided, single submitter | clinical testing | p.Asp303Asp in exon 16 of COL4A5: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 2.64% (245/9283) o f Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs144586397). |
Invitae | RCV000878152 | SCV001021012 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000878152 | SCV001143263 | benign | not provided | 2018-11-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000878152 | SCV001915998 | benign | not provided | 2019-12-05 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001834920 | SCV002081375 | likely benign | X-linked Alport syndrome | 2019-12-03 | no assertion criteria provided | clinical testing |