ClinVar Miner

Submissions for variant NM_004281.3(BAG3):c.1029C>A (p.Arg343=) (rs117972572)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000462999 SCV000521614 likely benign not provided 2021-06-22 criteria provided, single submitter clinical testing
Invitae RCV001085914 SCV000561201 likely benign Myofibrillar myopathy, BAG3-related; Dilated cardiomyopathy 1HH 2020-11-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619892 SCV000735925 likely benign Cardiovascular phenotype 2017-07-24 criteria provided, single submitter clinical testing In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign
CeGaT Praxis fuer Humangenetik Tuebingen RCV000462999 SCV001148109 likely benign not provided 2019-04-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000433101 SCV001156716 likely benign not specified 2018-08-12 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001102733 SCV001259420 benign Myofibrillar myopathy, BAG3-related 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV001107968 SCV001265158 uncertain significance Dilated cardiomyopathy 1HH 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000433101 SCV001432122 benign not specified 2020-08-24 criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV000433101 SCV001926156 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000462999 SCV001959311 likely benign not provided no assertion criteria provided clinical testing

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