Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000228136 | SCV000290514 | benign | Fanconi anemia | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001562605 | SCV001785395 | likely benign | not provided | 2020-12-23 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002257594 | SCV002529855 | likely benign | Hereditary cancer-predisposing syndrome | 2021-06-25 | criteria provided, single submitter | curation | |
KCCC/NGS Laboratory, |
RCV003316298 | SCV004015709 | benign | Premature ovarian failure 15 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001562605 | SCV004134050 | likely benign | not provided | 2023-03-01 | criteria provided, single submitter | clinical testing | FANCM: BP4, BP7 |
Genetic Services Laboratory, |
RCV003150997 | SCV003839525 | likely benign | not specified | 2022-09-07 | no assertion criteria provided | clinical testing |