Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000118053 | SCV000171178 | benign | not specified | 2012-04-12 | 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. |
Eurofins Ntd Llc |
RCV000118053 | SCV000230464 | benign | not specified | 2014-07-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000313184 | SCV000561675 | benign | Epilepsy, progressive myoclonic, 1B | 2024-01-30 | criteria provided, single submitter | clinical testing | |
SIB Swiss Institute of Bioinformatics | RCV000118053 | SCV000803589 | benign | not specified | 2018-05-31 | criteria provided, single submitter | curation | This variant is interpreted as a Benign - Stand Alone. The following ACMG Tag(s) were applied: BA1 => Allele frequency is >5% in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. |
Ambry Genetics | RCV002313917 | SCV000847604 | benign | Inborn genetic diseases | 2016-02-22 | 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. |
Genetic Services Laboratory, |
RCV000118053 | SCV000152382 | 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. | |
Bioinformatics Core, |
RCV000656031 | SCV000588307 | pathogenic | Childhood epilepsy with centrotemporal spikes | 2017-01-01 | no assertion criteria provided | case-control | CAADphred>15 |