Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000082027 | SCV000113962 | benign | not specified | 2015-08-19 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001807031 | SCV002055216 | benign | X-linked intellectual disability, Stocco dos Santos type | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000082027 | SCV002618436 | benign | not specified | 2014-11-24 | 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. |
Breakthrough Genomics, |
RCV004713258 | SCV005277847 | benign | not provided | criteria provided, single submitter | not provided | ||
Genetic Services Laboratory, |
RCV000082027 | SCV000152746 | 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. |