Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000082794 | SCV000114842 | benign | not specified | 2013-04-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000549596 | SCV000636699 | benign | Nance-Horan syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002311744 | SCV000846141 | benign | Inborn genetic diseases | 2014-12-13 | 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 |
RCV001573385 | SCV001887574 | benign | not provided | 2019-02-28 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 27884173, 21559051) |
Genetic Services Laboratory, |
RCV000082794 | SCV000152047 | 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. | |
Laboratory of Diagnostic Genome Analysis, |
RCV001573385 | SCV001799190 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000082794 | SCV001930006 | benign | not specified | no assertion criteria provided | clinical testing |