Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000472164 | SCV000558662 | likely benign | Fanconi anemia | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000472164 | SCV002529264 | likely benign | Fanconi anemia | 2020-12-15 | criteria provided, single submitter | curation | |
KCCC/NGS Laboratory, |
RCV003316602 | SCV004015508 | likely benign | Fanconi anemia complementation group P | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003409643 | SCV004144920 | likely benign | not provided | 2023-08-01 | criteria provided, single submitter | clinical testing | SLX4: BP4, BP7 |
Prevention |
RCV003970323 | SCV004776580 | likely benign | SLX4-related disorder | 2019-03-05 | 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). |