ClinVar Miner

Submissions for variant NM_001927.4(DES):c.1014G>C (p.Leu338=)

gnomAD frequency: 0.37027  dbSNP: rs12920
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Total submissions: 17
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037222 SCV000060879 benign not specified 2008-02-15 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000037222 SCV000111844 benign not specified 2013-03-12 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000037222 SCV000150948 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000037222 SCV000308534 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000250707 SCV000317448 benign Cardiovascular phenotype 2015-06-18 criteria provided, single submitter clinical testing This alteration is classified as 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.
Illumina Laboratory Services, Illumina RCV000270208 SCV000427726 benign Dilated cardiomyopathy 1I 2018-01-13 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 Laboratory Services, Illumina RCV001509598 SCV000427727 benign Desmin-related myofibrillar myopathy 2018-01-13 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 Laboratory Services, Illumina RCV000388336 SCV000427728 benign Myofibrillar Myopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000293964 SCV000427729 benign Neurogenic scapuloperoneal syndrome, Kaeser type 2018-01-13 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.
Athena Diagnostics Inc RCV000710116 SCV000613083 benign not provided 2017-07-12 criteria provided, single submitter clinical testing
Invitae RCV001509598 SCV001716413 benign Desmin-related myofibrillar myopathy 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000710116 SCV001950549 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000037222 SCV001740697 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000037222 SCV001920733 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000037222 SCV001927912 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000037222 SCV001958283 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000037222 SCV001969452 benign not specified no assertion criteria provided clinical testing

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