Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000635593 | SCV000757012 | likely benign | Birt-Hogg-Dube syndrome | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002257881 | SCV002530156 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-09-25 | criteria provided, single submitter | curation | |
Prevention |
RCV003965331 | SCV004786060 | likely benign | FLCN-related condition | 2022-02-25 | 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). |