Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000082261 | SCV000114210 | benign | not specified | 2013-08-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000082261 | SCV000314712 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Athena Diagnostics | RCV000576707 | SCV000677440 | benign | Smith-Magenis syndrome | 2017-05-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002311721 | SCV000846084 | benign | Inborn genetic diseases | 2016-03-11 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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. |
Gene |
RCV001664383 | SCV001873083 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000576707 | SCV002033426 | benign | Smith-Magenis syndrome | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001664383 | SCV002407857 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000082261 | SCV000152450 | likely benign | not specified | no assertion criteria provided | clinical testing | Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed. | |
Diagnostic Laboratory, |
RCV000082261 | SCV001740604 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000082261 | SCV001951703 | benign | not specified | no assertion criteria provided | clinical testing |