ClinVar Miner

Variants in gene combination DNAAF3, TNNI3

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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
0 0 6 19 19 21

Condition and significance breakdown #

Total conditions: 12
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Condition uncertain significance likely benign benign total
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 2 17 2 21
Hypertrophic cardiomyopathy 0 17 3 18
Primary ciliary dyskinesia 1 8 14 18
Dilated Cardiomyopathy, Recessive 0 16 0 16
Familial restrictive cardiomyopathy 0 16 0 16
not specified 0 0 16 16
Dilated cardiomyopathy 2A 5 2 1 8
Familial hypertrophic cardiomyopathy 7 2 1 5 8
Familial restrictive cardiomyopathy 1 2 1 5 8
Ciliary dyskinesia, primary, 2 0 0 5 5
Cardiomyopathy 0 0 4 4
Cardiovascular phenotype 0 0 2 2

Submitter and significance breakdown #

Total submitters: 13
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Submitter uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 6 19 9 21
PreventionGenetics,PreventionGenetics 0 0 16 16
Invitae 0 0 15 15
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 14 14
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 5 5
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 5 5
GeneDx 0 0 4 4
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 3 3
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 3 3
Color Health, Inc 0 0 3 3
Ambry Genetics 0 0 2 2
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 0 1 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 1 1

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