ClinVar Miner

Variants in gene KBTBD13

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
4 2 93 64 23 167

Condition and significance breakdown #

Total conditions: 4
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Nemaline myopathy 6 4 2 66 21 14 106
Nemaline Myopathy, Dominant 0 0 20 32 8 60
not specified 0 0 3 30 14 40
not provided 0 0 11 0 0 11

Submitter and significance breakdown #

Total submitters: 12
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 0 0 65 21 14 100
Illumina Clinical Services Laboratory,Illumina 0 0 22 32 8 62
GeneDx 0 0 11 19 12 42
PreventionGenetics 0 0 0 8 10 18
Genetic Services Laboratory, University of Chicago 0 0 1 5 4 10
OMIM 3 0 0 0 0 3
Athena Diagnostics Inc 0 0 0 0 3 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 1 0 0 2
NeuroMeGen,Hospital Clinico Santiago de Compostela 1 1 0 0 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 1 0 0 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 1 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.