Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000154734 | SCV000204414 | uncertain significance | not specified | 2014-11-24 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The p.Arg1775Cys va riant LAMA4 has not been previously reported in individuals with cardiomyopathy, but has been identified in 0.13% (6/4400) of African American chromosomes by th e NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs145 897390). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, while the c linical significance of the p.Arg1775Cys variant is uncertain, its frequency sug gests that it is more likely to be benign. |
Gene |
RCV000767119 | SCV000250563 | likely benign | not provided | 2020-10-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001087342 | SCV001131860 | likely benign | Dilated cardiomyopathy 1JJ | 2023-12-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002345501 | SCV002646816 | likely benign | Cardiovascular phenotype | 2021-02-18 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000154734 | SCV004242103 | likely benign | not specified | 2023-12-10 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000767119 | SCV001924348 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000767119 | SCV001928130 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000767119 | SCV001951871 | likely benign | not provided | no assertion criteria provided | clinical testing |