ClinVar Miner

Variants studied for Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Included ClinVar conditions (1):
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
1 0 839 322 327 1361

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic uncertain significance likely benign benign total
SYNE2 1 839 322 327 1361

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic uncertain significance likely benign benign total
Invitae 0 689 266 130 1085
Illumina Clinical Services Laboratory,Illumina 0 147 62 293 502
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 4 17 21
Baylor Genetics 0 10 0 0 10
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 2 8 10
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 7 0 0 7
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 5 1 1 7
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 3 4
Fulgent Genetics,Fulgent Genetics 0 2 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 2
OMIM 1 0 0 0 1
Mendelics 0 1 0 0 1

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