Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000247535 | SCV000302606 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Eurofins Ntd Llc |
RCV000247535 | SCV000332472 | benign | not specified | 2015-07-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000247535 | SCV000729010 | benign | not specified | 2017-04-25 | 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. |
Invitae | RCV001579445 | SCV000762849 | benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001579445 | SCV001477634 | benign | not provided | 2020-07-21 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001579445 | SCV001962550 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | FGFR3: BP4, BP7, BS2 |
Laboratory of Diagnostic Genome Analysis, |
RCV000247535 | SCV001800670 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001579445 | SCV001807263 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001579445 | SCV001951124 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001579445 | SCV001975768 | likely benign | not provided | no assertion criteria provided | clinical testing |