Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Preventiongenetics, |
RCV000116723 | SCV000305472 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Eurofins Ntd Llc |
RCV000116723 | SCV000331358 | benign | not specified | 2016-03-16 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000576356 | SCV000677252 | benign | not provided | 2017-05-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002312071 | SCV000846026 | 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 | RCV001520745 | SCV001729924 | benign | Autosomal dominant nocturnal frontal lobe epilepsy | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001578893 | SCV001806250 | benign | Autosomal dominant nocturnal frontal lobe epilepsy 1 | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000576356 | SCV001912817 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000116723 | SCV000150697 | 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. |