Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000117105 | SCV000224153 | benign | not specified | 2016-03-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002310675 | SCV000317574 | benign | Inborn genetic diseases | 2015-03-11 | 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. |
ARUP Laboratories, |
RCV000676782 | SCV000603760 | benign | not provided | 2023-11-29 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000676782 | SCV001143972 | benign | not provided | 2019-03-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000602503 | SCV001933672 | benign | Friedreich ataxia 1 | 2021-08-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000676782 | SCV001944792 | benign | not provided | 2019-08-05 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000676782 | SCV005266175 | benign | not provided | criteria provided, single submitter | not provided | ||
Genetic Services Laboratory, |
RCV000117105 | SCV000151248 | 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. | |
Diagnostic Laboratory, |
RCV000602503 | SCV000734703 | benign | Friedreich ataxia 1 | no assertion criteria provided | clinical testing | ||
Mayo Clinic Laboratories, |
RCV000676782 | SCV000802584 | benign | not provided | 2016-02-15 | no assertion criteria provided | clinical testing | |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000117105 | SCV001951868 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000117105 | SCV001968473 | benign | not specified | no assertion criteria provided | clinical testing |