Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000733962 | SCV000862070 | likely benign | not specified | 2018-06-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000951685 | SCV001098108 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000714314 | SCV001141992 | benign | X-linked Alport syndrome | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV000714314 | SCV001440205 | uncertain significance | X-linked Alport syndrome | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003953260 | SCV004771456 | likely benign | COL4A5-related condition | 2019-08-09 | 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, |
RCV000714314 | SCV001458772 | benign | X-linked Alport syndrome | 2020-09-16 | no assertion criteria provided | clinical testing |