Total submissions: 10
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000117376 | SCV000170009 | benign | not specified | 2013-12-06 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
| Prevention |
RCV000117376 | SCV000316250 | benign | not specified | criteria provided, single submitter | clinical testing | ||
| Illumina Laboratory Services, |
RCV000263469 | SCV000469804 | benign | Progressive myoclonic epilepsy type 3 | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
| Eurofins Ntd Llc |
RCV000117376 | SCV000703408 | benign | not specified | 2016-11-07 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002312164 | SCV000845993 | benign | Inborn genetic diseases | 2016-02-25 | 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 |
RCV000263469 | SCV001718693 | benign | Progressive myoclonic epilepsy type 3 | 2025-02-04 | criteria provided, single submitter | clinical testing | |
| Genome- |
RCV000263469 | SCV001980939 | benign | Progressive myoclonic epilepsy type 3 | 2021-08-19 | criteria provided, single submitter | clinical testing | |
| Breakthrough Genomics, |
RCV000675797 | SCV005270705 | benign | not provided | criteria provided, single submitter | not provided | ||
| Genetic Services Laboratory, |
RCV000117376 | SCV000151559 | 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. | |
| Mayo Clinic Laboratories, |
RCV000675797 | SCV000801518 | benign | not provided | 2015-12-16 | no assertion criteria provided | clinical testing |