Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000331728 | SCV000481939 | likely benign | VACTERL with hydrocephalus | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000386373 | SCV000481940 | likely benign | Fanconi Anemia, X-Linked | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000475401 | SCV000558849 | benign | Fanconi anemia | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000475401 | SCV002536440 | likely benign | Fanconi anemia | 2022-03-10 | criteria provided, single submitter | curation | |
Prevention |
RCV003970085 | SCV004777482 | likely benign | FANCB-related condition | 2020-09-02 | 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). |