ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.8300C>A (p.Thr2767Asn)

gnomAD frequency: 0.00701  dbSNP: rs34884895
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Total submissions: 19
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000038099 SCV000055172 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000038099 SCV000061765 benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Thr2767Asn in Exon 24 of DSP: This variant is not expected to have clinical si gnificance because it has been identified in 2.3% (87/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs34884895).
GeneDx RCV000038099 SCV000168271 benign not specified 2014-01-23 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.
Invitae RCV000232363 SCV000288549 benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000377767 SCV000465246 likely benign Woolly hair-skin fragility syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000271557 SCV000465247 likely benign Epidermolysis bullosa simplex due to plakophilin deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000329012 SCV000465248 likely benign Lethal acantholytic epidermolysis bullosa 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000381329 SCV000465249 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770250 SCV000901681 benign Cardiomyopathy 2023-06-09 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000770250 SCV000904535 benign Cardiomyopathy 2018-07-22 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000853000 SCV000995754 benign Hypertrophic cardiomyopathy; Systolic heart failure 2019-06-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811269 SCV001471687 benign not provided 2021-05-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490518 SCV002801932 benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8; Lethal acantholytic epidermolysis bullosa; Woolly hair-skin fragility syndrome; Keratosis palmoplantaris striata 2; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 2021-07-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001811269 SCV004163060 benign not provided 2022-12-01 criteria provided, single submitter clinical testing DSP: BP4, BS1, BS2
Clinical Genetics, Academic Medical Center RCV000038099 SCV001922045 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000038099 SCV001932293 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000038099 SCV001955607 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000038099 SCV001968617 benign not specified no assertion criteria provided clinical testing
Cohesion Phenomics RCV000770250 SCV003802960 benign Cardiomyopathy 2022-09-23 no assertion criteria provided clinical testing

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