Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000192624 | SCV000249505 | uncertain significance | not specified | 2015-05-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000958466 | SCV001105313 | likely benign | not provided | 2023-05-05 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003927813 | SCV004738421 | likely benign | ZNF335-related condition | 2019-05-07 | 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). |