Submissions for variant NM_001134363.3(RBM20):c.2655+15A>G

gnomAD frequency: 0.00436  dbSNP: rs187915202

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036968	SCV000060624	benign	not specified	2013-09-17	criteria provided, single submitter	clinical testing	2655+15A>G in intron 10 of RBM20: This variant is not expected to have clinical significance because it has been identified in 0.3% (10/3182) of European Americ an chromosomes and 0.15% (2/1384) of African American chromosomes by the NHLBI E xome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs187915202). 2655+15A>G in intron 10 of RBM20: rs187915202; allele frequency = 0.3 (10/3182 ) **
GeneDx	RCV000036968	SCV000171323	benign	not specified	2013-02-20	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.
Illumina Laboratory Services, Illumina	RCV000280358	SCV000360366	uncertain significance	Dilated cardiomyopathy 1DD	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000280358	SCV001472626	likely benign	Dilated cardiomyopathy 1DD	2019-09-15	criteria provided, single submitter	clinical testing
Invitae	RCV000280358	SCV002407122	benign	Dilated cardiomyopathy 1DD	2024-02-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000036968	SCV002500690	benign	not specified	2022-03-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001725121	SCV002821547	likely benign	not provided	2023-06-01	criteria provided, single submitter	clinical testing	RBM20: BS1
Clinical Genetics, Academic Medical Center	RCV000036968	SCV001917453	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000036968	SCV001931200	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001725121	SCV001959768	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000036968	SCV001972831	benign	not specified		no assertion criteria provided	clinical testing