Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000916416 | SCV001061654 | likely benign | not provided | 2023-07-04 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001002420 | SCV001160356 | benign | not specified | 2019-03-20 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003933054 | SCV004755638 | likely benign | PIEZO1-related condition | 2022-07-14 | 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). |