Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001427311 | SCV001629986 | likely benign | Fanconi anemia | 2023-04-12 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002487386 | SCV002802684 | likely benign | Spermatogenic failure 28; Premature ovarian failure 15 | 2021-08-16 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003950066 | SCV004764755 | likely benign | FANCM-related condition | 2019-11-11 | 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). |