ClinVar Miner

Variants studied for Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Coded as:
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Gene type:
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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
10 7 194 65 351 620

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SYNE1 10 7 178 62 330 581
ESR1, SYNE1 0 0 12 0 11 23
LOC126859837, SYNE1 0 0 2 2 4 7
LOC129997480, SYNE1 0 0 1 1 3 5
LOC126859836, SYNE1 0 0 0 0 2 2
LOC126859838, SYNE1 0 0 1 0 1 2

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 151 65 334 550
Genome-Nilou Lab 0 0 0 0 31 31
Baylor Genetics 0 1 28 0 0 29
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 2 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 0 3 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 0 1 3 0 0 4
OMIM 2 0 1 0 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 1 0 0 2
MGZ Medical Genetics Center 0 0 1 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 1
Breda Genetics srl 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 0 1 0 0 1
Department of Clinical Genetics, Medical University of Lodz 0 0 1 0 0 1

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