Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172773 | SCV000051414 | benign | not specified | 2013-06-24 | criteria provided, single submitter | research | |
Laboratory for Molecular Medicine, |
RCV000172773 | SCV000269404 | benign | not specified | 2014-11-24 | criteria provided, single submitter | clinical testing | Ala1141Thr in exon 18 of MYPN: This variant is not expected to have clinical sig nificance because it has been identified in 1.4% (60/4406) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs150404143). |
Invitae | RCV000228573 | SCV000291121 | benign | Dilated cardiomyopathy 1KK | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000172773 | SCV000513844 | benign | not specified | 2015-04-30 | 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. |
Ambry Genetics | RCV000618665 | SCV000736488 | benign | Cardiovascular phenotype | 2015-08-21 | 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. |
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000228573 | SCV000745067 | benign | Dilated cardiomyopathy 1KK | 2015-09-21 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003907546 | SCV004724605 | benign | MYPN-related condition | 2019-04-01 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Clinical Genetics, |
RCV000172773 | SCV001921825 | benign | not specified | no assertion criteria provided | clinical testing |