Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000866923 | SCV001008092 | likely benign | Fanconi anemia | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003413686 | SCV004142213 | likely benign | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | FANCL: BP4, BP7 |
Prevention |
RCV003908229 | SCV004722980 | likely benign | FANCL-related condition | 2019-06-07 | 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). |