ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.8472G>C (p.Gly2824=)

gnomAD frequency: 0.68624  dbSNP: rs2744380
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Total submissions: 26
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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 RCV000038104 SCV000061770 benign not specified 2011-07-20 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000038104 SCV000228150 benign not specified 2015-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000241982 SCV000317615 benign Cardiovascular phenotype 2015-03-09 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.
Illumina Laboratory Services, Illumina RCV000363396 SCV000465263 benign Woolly hair-skin fragility syndrome 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 Laboratory Services, Illumina RCV000577996 SCV000465264 benign Arrhythmogenic right ventricular dysplasia 8 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 Laboratory Services, Illumina RCV000328251 SCV000465265 benign Lethal acantholytic epidermolysis bullosa 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.
Phosphorus, Inc. RCV000577996 SCV000679901 benign Arrhythmogenic right ventricular dysplasia 8 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000578053 SCV000679902 benign Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000577940 SCV000679903 benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2017-08-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000775978 SCV000910499 benign Cardiomyopathy 2018-04-08 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000038104 SCV001433306 benign not specified 2019-10-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001520271 SCV001729332 benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000577940 SCV001875755 benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000578053 SCV001875757 benign Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000328251 SCV001875758 benign Lethal acantholytic epidermolysis bullosa 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001659971 SCV001875759 benign Keratosis palmoplantaris striata 2 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000363396 SCV001875760 benign Woolly hair-skin fragility syndrome 2021-07-30 criteria provided, single submitter clinical testing
GeneDx RCV001711149 SCV001944682 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000577940 SCV004834523 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2024-01-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003891481 SCV000310369 benign DSP-related disorder 2023-01-12 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000038104 SCV001742653 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000038104 SCV001925682 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000038104 SCV001926415 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000038104 SCV001955894 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000038104 SCV001972870 benign not specified no assertion criteria provided clinical testing
Cohesion Phenomics RCV000775978 SCV003802961 benign Cardiomyopathy 2022-09-23 no assertion criteria provided clinical testing

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