Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000889172 | SCV001032836 | likely benign | not provided | 2018-04-23 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001002160 | SCV001160016 | uncertain significance | not specified | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003920733 | SCV004734021 | likely benign | PFKL-related condition | 2022-04-28 | 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). |