Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000120982 | SCV000168411 | benign | not specified | 2014-01-07 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
KCCC/NGS Laboratory, |
RCV003315754 | SCV004017607 | benign | Fanconi anemia complementation group C | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003430675 | SCV004160160 | benign | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | FANCC: BS1, BS2 |
ITMI | RCV000120982 | SCV000085150 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
Natera, |
RCV001831912 | SCV002081157 | likely benign | Fanconi anemia | 2017-05-10 | no assertion criteria provided | clinical testing |