Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000884096 | SCV001027452 | likely benign | not provided | 2024-01-16 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000884096 | SCV001158334 | benign | not provided | 2023-05-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003940483 | SCV004751662 | likely benign | PIEZO1-related condition | 2019-06-17 | 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). |