Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000079966 | SCV000111857 | benign | not specified | 2018-03-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002311599 | SCV000846367 | benign | Inborn genetic diseases | 2014-12-13 | 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. |
Gene |
RCV001668194 | SCV001882158 | benign | not provided | 2021-06-09 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002498405 | SCV002805922 | benign | Fragile X syndrome; Fragile X-associated tremor/ataxia syndrome; Premature ovarian failure 1 | 2021-11-03 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000079966 | SCV000151234 | 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. | |
Natera, |
RCV001276519 | SCV001462899 | benign | Fragile X syndrome | 2020-09-16 | no assertion criteria provided | clinical testing |