Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000079311 | SCV000111181 | benign | not specified | 2017-06-07 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000079311 | SCV000305463 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Athena Diagnostics Inc | RCV000079311 | SCV000677246 | benign | not specified | 2021-06-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002311567 | SCV000846112 | benign | Inborn genetic diseases | 2016-01-08 | 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. |
Invitae | RCV001520743 | SCV001729922 | benign | Autosomal dominant nocturnal frontal lobe epilepsy | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000576823 | SCV001806248 | benign | Autosomal dominant nocturnal frontal lobe epilepsy 1 | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001675604 | SCV001895859 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000079311 | SCV000150688 | 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. |