Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000891620 | SCV001035445 | likely benign | not provided | 2022-08-24 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000891620 | SCV004562865 | benign | not provided | 2023-11-16 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003920767 | SCV004733156 | likely benign | PIEZO1-related disorder | 2019-05-01 | no assertion criteria provided | 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). |