Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000782218 | SCV001113894 | benign | not provided | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000782218 | SCV001753535 | likely benign | not provided | 2021-06-08 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 7706490, 9195222) |
Genome- |
RCV001580476 | SCV001810363 | likely benign | X-linked Alport syndrome | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001580476 | SCV002804931 | likely benign | X-linked Alport syndrome | 2022-05-17 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003417844 | SCV004114978 | uncertain significance | COL4A5-related condition | 2023-09-05 | criteria provided, single submitter | clinical testing | The COL4A5 c.4264C>T variant is predicted to result in the amino acid substitution p.Arg1422Cys. This variant was reported in two individuals with Alport syndrome along with a second potentially pathogenic variant (Guo. 1995. PubMed ID: 7706490; Table S3, Domingo-Gallego. 2022. PubMed ID: 33532864). This variant is reported in 0.067% of alleles in individuals of European (Non-Finnish) descent in gnomAD, including 28 hemizygous individuals (http://gnomad.broadinstitute.org/variant/X-107929326-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Gharavi Laboratory, |
RCV000782218 | SCV000920705 | uncertain significance | not provided | 2018-09-16 | no assertion criteria provided | research | |
Natera, |
RCV001580476 | SCV002083673 | likely benign | X-linked Alport syndrome | 2020-03-04 | no assertion criteria provided | clinical testing |