Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000878111 | SCV001020963 | benign | not provided | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001278789 | SCV002797973 | likely benign | X-linked Alport syndrome | 2021-09-08 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003908357 | SCV004718575 | likely benign | COL4A5-related condition | 2021-10-21 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Natera, |
RCV001278789 | SCV001465821 | likely benign | X-linked Alport syndrome | 2020-08-31 | no assertion criteria provided | clinical testing |