Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002312062 | SCV000846371 | 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. |
Genome- |
RCV001554357 | SCV001775583 | benign | Intellectual disability, autosomal recessive 3 | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001682805 | SCV001903939 | benign | not provided | 2019-03-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001682805 | SCV004395930 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000116594 | SCV000150557 | 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. |