Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001081764 | SCV000288174 | benign | Baller-Gerold syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000382176 | SCV000344543 | likely benign | not specified | 2016-08-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000230921 | SCV001155572 | likely benign | not provided | 2024-05-01 | criteria provided, single submitter | clinical testing | RECQL4: BP4, BS2 |
Gene |
RCV000230921 | SCV001915271 | benign | not provided | 2019-07-05 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 29220673) |
Institute for Clinical Genetics, |
RCV000230921 | SCV002009938 | likely benign | not provided | 2021-11-03 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000382176 | SCV002071478 | likely benign | not specified | 2021-04-16 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002257548 | SCV002527805 | likely benign | Hereditary cancer-predisposing syndrome | 2020-12-27 | criteria provided, single submitter | curation | |
KCCC/NGS Laboratory, |
RCV003316270 | SCV004017296 | benign | Rothmund-Thomson syndrome type 2 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Laboratory of Diagnostic Genome Analysis, |
RCV000230921 | SCV001798972 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000230921 | SCV001807152 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000230921 | SCV001928682 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000230921 | SCV001952224 | likely benign | not provided | no assertion criteria provided | clinical testing |