Total submissions: 19
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036943 | SCV000060599 | likely benign | not specified | 2012-03-16 | criteria provided, single submitter | clinical testing | p.Ser455Leu in exon 4 of RBM20: This variant has been reported in one individual with DCM and was absent in 1000 Caucasian and 200 African American control chro mosomes (Refaat 2011). However, this variant is not expected to have clinical si gnificance because it has been identified in 1.1% (27/2532) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS). |
Gene |
RCV000036943 | SCV000236307 | benign | not specified | 2016-09-07 | 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. |
Labcorp Genetics |
RCV000229126 | SCV000286178 | benign | Dilated cardiomyopathy 1DD | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000036943 | SCV000306787 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Ambry Genetics | RCV000242401 | SCV000318448 | benign | Cardiovascular phenotype | 2016-03-03 | 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. |
ARUP Laboratories, |
RCV000229126 | SCV000605014 | likely benign | Dilated cardiomyopathy 1DD | 2022-03-11 | criteria provided, single submitter | clinical testing | |
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV000036943 | SCV000740657 | likely benign | not specified | 2016-07-26 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000770279 | SCV000901711 | benign | Cardiomyopathy | 2017-10-19 | criteria provided, single submitter | clinical testing | |
Center for Advanced Laboratory Medicine, |
RCV000852630 | SCV000995335 | benign | Long QT syndrome | 2018-05-15 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000229126 | SCV001260073 | likely benign | Dilated cardiomyopathy 1DD | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000036943 | SCV001362403 | benign | not specified | 2019-08-26 | criteria provided, single submitter | clinical testing | Variant summary: RBM20 c.1364C>T (p.Ser455Leu) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.0056 in 153884 control chromosomes, including 5 homozygotes (gnomAD). The variant was observed with even higher frequency within Non-Finnish European control individuals (0.0078) that is approximately 300 fold of the estimated maximal expected allele frequency for a pathogenic variant in RBM20 causing Cardiomyopathy phenotype (2.5e-05), strongly suggesting that the variant is a benign polymorphism. Six clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, and all of them classified the variant as benign (4x) / likely benign (2x). Based on the evidence outlined above, the variant was classified as benign. |
Ce |
RCV003221791 | SCV003916640 | benign | not provided | 2024-08-01 | criteria provided, single submitter | clinical testing | RBM20: BP4, BS1, BS2 |
Molecular Genetics, |
RCV000770279 | SCV004812543 | benign | Cardiomyopathy | 2023-10-06 | criteria provided, single submitter | clinical testing | |
CSER _CC_NCGL, |
RCV000148767 | SCV000190504 | uncertain significance | Primary dilated cardiomyopathy | 2014-06-01 | no assertion criteria provided | research | |
Diagnostic Laboratory, |
RCV000229126 | SCV000732913 | likely benign | Dilated cardiomyopathy 1DD | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000036943 | SCV001917083 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000036943 | SCV001931468 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000036943 | SCV001953003 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000036943 | SCV001975320 | benign | not specified | no assertion criteria provided | clinical testing |