Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Diagnostic Laboratory, |
RCV000238685 | SCV000297341 | benign | not specified | 2015-07-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000948329 | SCV001094532 | likely benign | not provided | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000948329 | SCV004162396 | likely benign | not provided | 2022-09-01 | criteria provided, single submitter | clinical testing | PCLO: BP4, BS2 |
Prevention |
RCV003967681 | SCV004779929 | likely benign | PCLO-related condition | 2022-11-17 | 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). |