Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000963148 | SCV001110285 | likely benign | not provided | 2018-03-05 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000963148 | SCV001473562 | uncertain significance | not provided | 2020-05-05 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003943125 | SCV004758239 | likely benign | PIEZO1-related condition | 2023-12-21 | 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). |