Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000884095 | SCV001027451 | likely benign | not provided | 2024-01-16 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000884095 | SCV001159215 | likely benign | not provided | 2023-07-26 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000884095 | SCV001715160 | uncertain significance | not provided | 2022-07-26 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003920602 | SCV004734796 | likely benign | PIEZO1-related condition | 2022-02-03 | 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). |