Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000037759 | SCV000054799 | benign | not specified | 2013-06-24 | criteria provided, single submitter | research | |
Laboratory for Molecular Medicine, |
RCV000037759 | SCV000061421 | benign | not specified | 2012-03-19 | criteria provided, single submitter | clinical testing | p.Ala309Pro in Exon 04 of TMPO: This variant is not expected to have clinical si gnificance because it has been identified in 4.4% (163/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs114939776). |
Gene |
RCV000037759 | SCV000168998 | benign | not specified | 2014-04-17 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Labcorp Genetics |
RCV000227357 | SCV000287935 | benign | Loeys-Dietz syndrome 2 | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000037759 | SCV000317915 | benign | not specified | 2015-08-04 | 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. |
Breakthrough Genomics, |
RCV004707868 | SCV005234850 | benign | not provided | criteria provided, single submitter | not provided |