ClinVar Miner

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

Coded as:
Minimum submission review status: Collection method:
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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 total
6 2 155 66 334 558

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SYNE1 6 2 144 66 323 536
ESR1, SYNE1 0 0 11 0 11 22

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 150 66 334 550
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 0 3 0 0 6
OMIM 2 0 1 0 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 1 0 0 2
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 1

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