Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000118680 | SCV000314801 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000322051 | SCV000472221 | benign | Intellectual Disability, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002312524 | SCV000846127 | benign | Inborn genetic diseases | 2016-03-11 | 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 | RCV001511980 | SCV001719309 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001511980 | SCV001852460 | benign | not provided | 2018-07-20 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001838549 | SCV002098716 | benign | Intellectual disability, autosomal recessive 13 | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000118680 | SCV000153094 | 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, |
RCV000118680 | SCV001743262 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000118680 | SCV001952893 | benign | not specified | no assertion criteria provided | clinical testing |