ClinVar Miner

Variants studied for Becker muscular dystrophy

Included ClinVar conditions (5):
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
32 4 23 4 8 3 73

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DMD 32 4 21 4 8 3 71
PKP2 0 0 1 0 0 0 1
SNTA1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
OMIM 13 0 1 0 0 0 14
Fulgent Genetics,Fulgent Genetics 4 0 10 0 0 0 14
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 11 0 0 0 0 0 11
Natera Inc 0 0 5 4 2 0 11
Athena Diagnostics Inc 0 0 0 0 7 0 7
Counsyl 2 2 1 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Baylor Genetics 2 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 0 0 0 0 2
CSER _CC_NCGL, University of Washington 0 1 1 0 0 0 2
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 2 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 1 0 2
Phosphorus, Inc. 0 0 2 0 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 1 0 0 0 1

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