Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000318452 | SCV000340174 | benign | not specified | 2016-03-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000526120 | SCV000636908 | likely benign | Hajdu-Cheney syndrome | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001529982 | SCV001832991 | benign | not provided | 2020-06-24 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 30487145, 28776642, 24448499) |
Diagnostic Laboratory, |
RCV001529982 | SCV001744405 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV001529982 | SCV001798108 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001529982 | SCV001970156 | likely benign | not provided | no assertion criteria provided | clinical testing |