ClinVar Miner

Variants in gene DNAH8

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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 not provided total
78 23 816 655 357 1 1901

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Primary ciliary dyskinesia 74 20 687 612 142 0 1534
not provided 0 1 36 42 253 1 332
Inborn genetic diseases 0 0 192 9 0 0 201
Spermatogenic failure 46 5 0 21 8 1 0 34
not specified 0 0 1 1 17 0 19
DNAH8-related condition 0 3 6 0 0 0 9
Malignant tumor of prostate 0 0 1 0 0 0 1
Recurrent infections 0 0 1 0 0 0 1
Recurrent respiratory infections; Recurrent infections of the middle ear 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 74 20 681 634 142 0 1551
GeneDx 0 0 20 0 253 0 273
Ambry Genetics 0 0 192 9 0 0 201
CeGaT Center for Human Genetics Tuebingen 0 0 8 20 0 0 28
Fulgent Genetics, Fulgent Genetics 0 0 12 8 1 0 21
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 1 1 14 0 16
Preventiongenetics, part of Exact Sciences 0 3 6 0 6 0 15
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 12 2 0 0 15
Revvity Omics, Revvity Omics 0 0 7 0 0 0 7
OMIM 5 0 1 0 0 0 6
Johns Hopkins Genomics, Johns Hopkins University 0 0 5 0 0 0 5
Mayo Clinic Laboratories, Mayo Clinic 0 1 3 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 0 0 3 0 0 0 3
Bionano Laboratories 0 0 2 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 0 2 0 0 0 2
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1

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