Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000117069 | SCV000151211 | benign | not specified | 2013-08-15 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000117069 | SCV000269120 | benign | not specified | 2015-01-13 | criteria provided, single submitter | clinical testing | p.Val1099Val in exon 21 of FLNC: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 48.3% (1996/4136) of African American chromosomes from a broad population by the NHLBI Exome Sequ encing Project (http://evs.gs.washington.edu/EVS; dbSNP rs3734973). |
Prevention |
RCV000117069 | SCV000307946 | benign | not specified | 2015-12-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000117069 | SCV000513068 | benign | not specified | 2016-01-05 | 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. |
Athena Diagnostics | RCV000711679 | SCV000842066 | benign | not provided | 2017-09-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001520068 | SCV001729079 | benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000117069 | SCV001774557 | benign | not specified | 2021-07-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002453430 | SCV002612026 | benign | Cardiovascular phenotype | 2018-12-21 | 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. |
Clinical Genetics, |
RCV000117069 | SCV001917251 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000117069 | SCV001953462 | benign | not specified | no assertion criteria provided | clinical testing |