Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000155540 | SCV000168330 | benign | not specified | 2013-10-22 | 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. |
Laboratory for Molecular Medicine, |
RCV000155540 | SCV000205239 | benign | not specified | 2013-02-21 | criteria provided, single submitter | clinical testing | Thr343Thr in exon 8 of ENG: 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 8.0% (691/8600) of Eur opean American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs3739817). |
Prevention |
RCV000155540 | SCV000302329 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000321720 | SCV000477336 | likely benign | Telangiectasia, hereditary hemorrhagic, type 1 | 2016-06-14 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000321720 | SCV000603449 | benign | Telangiectasia, hereditary hemorrhagic, type 1 | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001515050 | SCV001723036 | benign | Hereditary hemorrhagic telangiectasia | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000155540 | SCV001774712 | benign | not specified | 2021-07-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002381438 | SCV002693289 | benign | Cardiovascular phenotype | 2015-08-05 | 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, |
RCV004706569 | SCV005227522 | likely benign | not provided | criteria provided, single submitter | not provided |