Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155817 | SCV000205528 | benign | not specified | 2013-07-29 | criteria provided, single submitter | clinical testing | Pro75Pro in exon 1 of TMPO: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 1.5% (54/3656) of Afri can American chromosomes from a broad population by the NHLBI Exome Sequencing P roject (http://evs.gs.washington.edu/EVS; dbSNP rs59027673). |
Labcorp Genetics |
RCV000470699 | SCV000561636 | benign | Loeys-Dietz syndrome 2 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000155817 | SCV000736195 | benign | not specified | 2015-05-27 | 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. |
Gene |
RCV001682875 | SCV001901857 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV001682875 | SCV005234837 | benign | not provided | criteria provided, single submitter | not provided |