Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000194139 | SCV000248459 | uncertain significance | not specified | 2014-12-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003736631 | SCV004558332 | likely benign | not provided | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003895250 | SCV004715926 | likely benign | PCNT-related condition | 2022-01-31 | 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). |