Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000180998 | SCV000170619 | benign | not specified | 2013-11-22 | 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, |
RCV000180998 | SCV000269388 | benign | not specified | 2014-10-29 | criteria provided, single submitter | clinical testing | p.Ser549Ser in exon 11 of MYPN: This variant is not expected to have clinical si gnificance because it has been identified in 70% (5986/8600) of European America n chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.ed u/EVS/; dbSNP rs2673794). |
Ambry Genetics | RCV000247309 | SCV000317619 | benign | Cardiovascular phenotype | 2015-06-12 | 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. |
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV000180998 | SCV000740635 | benign | not specified | 2016-05-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001079910 | SCV001000079 | benign | Dilated cardiomyopathy 1KK | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001079910 | SCV002015944 | benign | Dilated cardiomyopathy 1KK | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001778663 | SCV002015945 | benign | MYPN-related myopathy | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Leiden Muscular Dystrophy |
RCV000024488 | SCV000045792 | not provided | not provided | 2012-04-27 | no assertion provided | curation |