Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002312507 | SCV000846359 | benign | Inborn genetic diseases | 2016-03-02 | 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 |
RCV000860451 | SCV001000510 | benign | Intellectual disability, autosomal dominant 5 | 2025-02-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001689659 | SCV001915098 | benign | not provided | 2018-07-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000860451 | SCV002062155 | benign | Intellectual disability, autosomal dominant 5 | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Unidad de Genómica Garrahan, |
RCV000118566 | SCV005091814 | benign | not specified | 2024-07-31 | criteria provided, single submitter | clinical testing | This variant is classified as Benign based on local population frequency. This variant was detected in 20% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy, Progressive Myoclonus Epilepsy and Abnormal Movements and Neurodegeneration with brain iron accumulation. Number of patients: 19. Only high quality variants are reported. |
Genetic Services Laboratory, |
RCV000118566 | SCV000152972 | 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. |