Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001733490 | SCV001983936 | likely benign | not provided | 2021-04-22 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001821973 | SCV002068480 | uncertain significance | not specified | 2018-03-06 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001733490 | SCV004134343 | likely benign | not provided | 2024-04-01 | criteria provided, single submitter | clinical testing | C12orf57: BP4, BS2; ENSG00000272173: BS2 |
Prevention |
RCV003931310 | SCV004741723 | likely benign | C12orf57-related disorder | 2019-05-13 | 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). |