Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000174934 | SCV000226338 | benign | not specified | 2014-05-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000538270 | SCV000631247 | benign | CHARGE association | 2023-12-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001721106 | SCV000714552 | benign | not provided | 2019-12-02 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 30653986) |
Ambry Genetics | RCV002317008 | SCV000850683 | benign | Inborn genetic diseases | 2017-05-25 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Laboratory for Molecular Medicine, |
RCV000174934 | SCV000967055 | benign | not specified | 2017-08-23 | criteria provided, single submitter | clinical testing | p.Gly1233Ser in exon 15 of CHD7: This variant is not expected to have clinical s ignificance because it has been identified in 0.87% (85/9800) of African chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs190548814). |
Genetic Services Laboratory, |
RCV000174934 | SCV002071512 | benign | not specified | 2017-12-05 | criteria provided, single submitter | clinical testing | |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000174934 | SCV001979545 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001721106 | SCV001980091 | likely benign | not provided | no assertion criteria provided | clinical testing |