Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000939773 | SCV001085624 | likely benign | not provided | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV001195567 | SCV001365960 | likely benign | not specified | 2017-08-23 | criteria provided, single submitter | clinical testing | p.Pro747Pro in exon 28 of COL4A4: 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 0.10% (10/9708) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs374510402). |
Sydney Genome Diagnostics, |
RCV001274052 | SCV001449254 | uncertain significance | Alport syndrome | 2018-05-03 | no assertion criteria provided | clinical testing | |
Natera, |
RCV001274052 | SCV001457778 | likely benign | Alport syndrome | 2020-01-06 | no assertion criteria provided | clinical testing |