Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000946374 | SCV001092503 | benign | not provided | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000946374 | SCV001143247 | uncertain significance | not provided | 2019-05-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000946374 | SCV001788413 | likely benign | not provided | 2020-11-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003913208 | SCV004737247 | likely benign | COL4A5-related condition | 2022-12-19 | 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). |