ClinVar Miner

Variants in gene combination DSC2, DSCAS

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
4 4 46 34 7 5 88

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Arrhythmogenic right ventricular dysplasia 11 4 3 29 16 2 0 53
Cardiomyopathy 0 0 18 9 2 0 28
not provided 1 1 5 7 4 0 18
Cardiovascular phenotype 0 0 4 8 2 0 14
not specified 0 0 3 3 3 5 14
Arrhythmogenic right ventricular cardiomyopathy 0 0 5 0 0 0 5

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 3 2 18 14 2 0 39
Color Diagnostics, LLC DBA Color Health 0 0 18 9 1 0 28
GeneDx 1 1 5 9 4 0 20
Illumina Laboratory Services, Illumina 0 0 16 1 1 0 18
Ambry Genetics 0 0 4 8 2 0 14
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 2 0 1 5 8
Fulgent Genetics, Fulgent Genetics 0 1 4 1 0 0 6
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 0 2 0 2 0 4
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 1 1 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 1 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
Revvity Omics, Revvity Omics 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 1
Clinical Genetics, Academic Medical Center 0 0 0 0 1 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 0 0 1 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Blueprint Genetics 0 0 1 0 0 0 1
CeGaT Center for Human Genetics Tuebingen 0 0 0 0 1 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 0 1 0 1
Cohesion Phenomics 0 0 0 0 1 0 1

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