ClinVar Miner

Variants studied for Laing early-onset distal myopathy

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 total
32 6 49 47 11 144

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
MYH7 12 6 43 39 7 107
MHRT, MYH7 20 0 6 6 3 34
LOC114827851, MYH6, MYH7 0 0 0 1 0 1
LOC114827851, MYH7 0 0 0 1 0 1
MYH6, MYH7 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 36 47 9 92
GeneReviews 25 0 0 0 3 28
Fulgent Genetics,Fulgent Genetics 7 2 8 0 0 17
Neurogenetics Laboratory,Royal Perth Hospital 15 0 0 0 0 15
OMIM 4 0 0 0 0 4
Phosphorus, Inc. 0 0 3 0 0 3
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 0 0 2
Broad Institute Rare Disease Group,Broad Institute 0 0 2 0 0 2
Baylor Genetics 0 1 0 0 0 1
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 1

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