Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000082702 | SCV000114746 | benign | not specified | 2013-09-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002311743 | SCV000846623 | benign | Inborn genetic diseases | 2016-03-23 | 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. |
Gene |
RCV001540522 | SCV001758416 | benign | not provided | 2018-09-27 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000082702 | SCV000152412 | 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. |