Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037744 | SCV000061406 | likely benign | not specified | 2012-03-19 | criteria provided, single submitter | clinical testing | Glu496Glu in exon 4 of TMPO: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. It has been identified in 1/7020 European Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS). Glu496Glu in exon 4 of TMPO (allele frequency = 1/7020) ** |
Ambry Genetics | RCV000037744 | SCV002700862 | likely benign | not specified | 2022-10-07 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |
Labcorp Genetics |
RCV002513484 | SCV003456432 | likely benign | Loeys-Dietz syndrome 2 | 2022-03-16 | criteria provided, single submitter | clinical testing |