Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000082214 | SCV000114163 | benign | not specified | 2013-04-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002313823 | SCV000847723 | benign | Inborn genetic diseases | 2016-04-15 | 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 | RCV000401691 | SCV001103584 | benign | Kleefstra syndrome 1 | 2023-11-06 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001705780 | SCV001860625 | benign | not provided | 2018-07-17 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000082214 | SCV000151069 | 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. |