Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000537316 | SCV000636906 | likely benign | Hajdu-Cheney syndrome | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000121727 | SCV000706925 | likely benign | not specified | 2017-03-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001530142 | SCV001836378 | benign | not provided | 2020-03-19 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 30304577, 28776642) |
Fulgent Genetics, |
RCV002505068 | SCV002813769 | likely benign | Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney syndrome | 2021-07-08 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001530142 | SCV004124452 | benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | NOTCH2: PP2, BP4, BS1, BS2 |
ITMI | RCV000121727 | SCV000085925 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
Diagnostic Laboratory, |
RCV001530142 | SCV001744860 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV001530142 | SCV001797349 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000121727 | SCV001932032 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001530142 | SCV001968225 | likely benign | not provided | no assertion criteria provided | clinical testing |