ClinVar Miner

Variants in gene DSC3

Minimum submission review status: Collection method:
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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 total
3 5 71 11 54 141

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not specified 0 0 68 4 1 73
not provided 1 3 3 3 53 61
DSC3-related disorder 0 0 0 3 3 6
Hereditary hypotrichosis with recurrent skin vesicles 2 3 0 0 0 5
EBV-positive nodal T- and NK-cell lymphoma 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Ambry Genetics 0 0 68 4 0 72
GeneDx 0 1 1 0 50 52
Breakthrough Genomics, Breakthrough Genomics 0 0 1 1 22 24
Labcorp Genetics (formerly Invitae), Labcorp 1 2 0 2 3 8
PreventionGenetics, part of Exact Sciences 0 0 0 3 3 6
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 2 0 0 3
OMIM 2 0 0 0 0 2
Baylor Genetics 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 1 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 1
Department of Clinical Pathology, School of Medicine, Fujita Health University 0 0 0 1 0 1

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