Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000192828 | SCV000247358 | benign | not specified | 2020-10-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000475473 | SCV000558912 | benign | Fanconi anemia | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001538837 | SCV001756543 | likely benign | not provided | 2021-04-09 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000192828 | SCV002774590 | benign | not specified | 2021-07-07 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV003316085 | SCV004015700 | benign | Premature ovarian failure 15 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004530112 | SCV004733178 | benign | FANCM-related disorder | 2019-05-03 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |