Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000121713 | SCV000344318 | benign | not specified | 2016-08-02 | criteria provided, single submitter | clinical testing | |
Center for Pediatric Genomic Medicine, |
RCV000514670 | SCV000610879 | benign | not provided | 2017-06-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001089399 | SCV001021052 | benign | Hajdu-Cheney syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000514670 | SCV001901035 | benign | not provided | 2020-05-18 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000514670 | SCV004124458 | likely benign | not provided | 2023-03-01 | criteria provided, single submitter | clinical testing | NOTCH2: PP2, BP4, BS1 |
ITMI | RCV000121713 | SCV000085911 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |