Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000116516 | SCV000306691 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000116516 | SCV000519200 | benign | not specified | 2016-01-08 | 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. |
Athena Diagnostics Inc | RCV000116516 | SCV000841248 | benign | not specified | 2021-05-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002312048 | SCV000845855 | benign | Inborn genetic diseases | 2016-02-09 | 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 | RCV001511465 | SCV001718714 | benign | Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000116516 | SCV000150465 | 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. | |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000116516 | SCV001956407 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000116516 | SCV001976036 | benign | not specified | no assertion criteria provided | clinical testing |