Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000945377 | SCV001091382 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV001195572 | SCV001365965 | likely benign | not specified | 2017-08-23 | criteria provided, single submitter | clinical testing | p.Gly1451Gly in exon 49 of COL4A5: 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 0.06% (6/10123) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs146884759). |
Gene |
RCV000945377 | SCV001816737 | likely benign | not provided | 2020-03-23 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001832186 | SCV002083677 | likely benign | X-linked Alport syndrome | 2019-12-31 | no assertion criteria provided | clinical testing |