ClinVar Miner

Variants in gene MYLK2

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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
2 1 107 78 39 195

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not specified 0 0 20 55 18 87
Familial hypertrophic cardiomyopathy 1 0 0 48 11 18 75
not provided 0 0 18 9 13 40
Hypertrophic cardiomyopathy 0 0 28 8 0 36
Cardiomyopathy 0 1 8 6 7 22
Cardiomyopathy, hypertrophic, midventricular, digenic 2 0 0 0 0 2
Fabry disease 0 0 1 0 0 1
Primary familial hypertrophic cardiomyopathy 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneDx 0 0 10 44 28 82
Invitae 0 0 47 8 18 73
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 19 25 11 55
Illumina Clinical Services Laboratory,Illumina 0 0 26 8 0 34
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 0 8 6 3 17
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 8 2 1 11
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 7 8
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 3 0 3
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 0 3 0 0 3
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 3 0 3
OMIM 2 0 0 0 0 2
Blueprint Genetics 0 0 2 0 0 2
Center for Human Genetics,University of Leuven 0 0 2 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 0 1 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 1
Laboratory of Genetics and Molecular Cardiology,University of São Paulo 0 0 1 0 0 1

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