Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000082216 | SCV000114165 | benign | not specified | 2012-07-18 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000082216 | SCV000314443 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Ambry Genetics | RCV002311535 | SCV000845893 | 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 | RCV001516154 | SCV001724386 | benign | Kleefstra syndrome 1 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001719805 | SCV001948682 | benign | not provided | 2018-07-03 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000082216 | SCV000151071 | 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. |