Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000118050 | SCV000232795 | benign | not specified | 2014-07-02 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000712845 | SCV000843383 | benign | not provided | 2018-05-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000118050 | SCV000845979 | benign | not specified | 2016-01-08 | 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. |
Labcorp Genetics |
RCV001517090 | SCV001725504 | benign | Epilepsy, progressive myoclonic, 1B | 2025-02-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000712845 | SCV001889555 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000712845 | SCV005230533 | benign | not provided | criteria provided, single submitter | not provided | ||
Genetic Services Laboratory, |
RCV000118050 | SCV000152378 | 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, |
RCV000118050 | SCV001742837 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000118050 | SCV001929121 | benign | not specified | no assertion criteria provided | clinical testing |