ClinVar Miner

Variants in gene DNAH1

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
95 63 1410 1295 197 55 2964

Condition and significance breakdown #

Total conditions: 41
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 84 36 956 1159 146 4 2371
not specified 0 0 534 20 45 0 598
not provided 2 9 142 154 121 1 400
DNAH1-related disorder 1 7 31 80 10 0 129
Ciliary dyskinesia, primary, 37 5 6 29 2 3 0 45
Primary ciliary dyskinesia 1 4 24 0 0 0 29
Spermatogenic failure 18 12 3 9 1 3 0 28
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 10 10
Acute myeloid leukemia 0 0 0 0 0 7 7
Ovarian serous cystadenocarcinoma 0 0 0 0 0 7 7
Familial cancer of breast 0 0 0 0 0 5 5
Gastric cancer 0 0 0 0 0 5 5
Lung cancer 0 0 0 0 0 4 4
Malignant tumor of esophagus 0 0 0 0 0 4 4
Melanoma 0 0 0 0 0 4 4
Uterine corpus endometrial carcinoma 0 0 0 0 0 4 4
Clear cell carcinoma of kidney 0 0 0 0 0 3 3
Nonpapillary renal cell carcinoma 0 0 0 0 0 3 3
Cholangiocarcinoma 0 0 0 0 0 2 2
Colon adenocarcinoma 0 0 0 0 0 2 2
Congenital portosystemic shunt 0 0 2 0 0 0 2
Intellectual disability 0 0 2 0 0 0 2
Papillary renal cell carcinoma type 1 0 0 0 0 0 2 2
Premature ovarian insufficiency 0 0 2 0 0 0 2
Uterine carcinosarcoma 0 0 0 0 0 2 2
Abnormal sperm morphology; Oligospermia; Reduced sperm motility 0 1 0 0 0 0 1
Adams-Oliver syndrome 6 0 0 1 0 0 0 1
Adrenocortical carcinoma, hereditary 0 0 0 0 0 1 1
Cervical cancer 0 0 0 0 0 1 1
Chronic lymphocytic leukemia/small lymphocytic lymphoma 0 0 0 0 0 1 1
Familial pancreatic carcinoma 0 0 0 0 0 1 1
Hepatocellular carcinoma 0 0 0 0 0 1 1
Kartagener syndrome 0 0 0 0 0 1 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 1 1
Malignant tumor of urinary bladder 0 0 0 0 0 1 1
Non-syndromic male infertility due to sperm motility disorder 0 1 0 0 0 0 1
Oligosynaptic infertility; Ciliary dyskinesia, primary, 37 0 0 0 0 0 1 1
Primary ciliary dyskinesia 2 0 0 1 0 0 0 1
Primary ciliary dyskinesia 7 1 0 0 0 0 0 1
Sarcoma 0 0 0 0 0 1 1
Thymoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 45
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 82 27 945 1181 146 0 2381
Ambry Genetics 0 0 530 15 0 0 545
GeneDx 0 3 68 39 67 0 177
Breakthrough Genomics, Breakthrough Genomics 0 0 12 50 75 0 137
PreventionGenetics, part of Exact Sciences 0 7 31 80 10 0 128
CeGaT Center for Human Genetics Tuebingen 1 1 22 54 7 0 85
Mayo Clinic Laboratories, Mayo Clinic 0 3 24 13 41 0 81
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 11 25 38 0 74
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 48 48
Fulgent Genetics, Fulgent Genetics 1 3 21 7 2 0 34
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 23 0 0 0 24
Johns Hopkins Genomics, Johns Hopkins University 0 2 11 1 0 0 14
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 4 1 8 0 14
Revvity Omics, Revvity 1 1 11 1 0 0 14
Baylor Genetics 1 0 12 0 0 0 13
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 7 3 0 0 12
Juno Genomics, Hangzhou Juno Genomics, Inc 4 5 3 0 0 0 12
Department of Pathology and Laboratory Medicine, Sinai Health System 1 3 6 0 0 0 10
OMIM 7 0 0 0 0 0 7
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 5 0 0 0 6
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 5 5
AiLife Diagnostics, AiLife Diagnostics 0 1 3 0 0 0 4
Dubai Health Genomic Medicine Center, Dubai Health 0 0 2 1 0 0 3
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 3 0 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 1 0 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 1 2 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 3 0 0 0 3
Biology Pathology Center, Lille University Hospital 1 1 0 0 0 0 2
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 2 0 0 0 2
Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University 0 0 2 0 0 0 2
Diagnostic Laboratory, Strasbourg University Hospital 2 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
Reproductive Development, Murdoch Childrens Research Institute 0 0 2 0 0 0 2
3billion 1 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Eurofins Ntd Llc (ga) 0 0 1 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Huzhibin Lab, Nanjing Medical University 0 1 0 0 0 0 1
New York Genome Center 0 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 0 0 0 1

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