Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000121003 | SCV000594693 | benign | not specified | 2021-06-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000630963 | SCV000751939 | likely benign | Fanconi anemia | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000630963 | SCV002529534 | likely benign | Fanconi anemia | 2020-12-01 | criteria provided, single submitter | curation | |
KCCC/NGS Laboratory, |
RCV003315755 | SCV004017645 | likely benign | Fanconi anemia complementation group D2 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003905154 | SCV004727292 | likely benign | FANCD2-related disorder | 2020-01-15 | 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). |
ITMI | RCV000121003 | SCV000085171 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |