ClinVar Miner

Variants in gene DIAPH1

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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 not provided total
38 29 1033 779 73 46 1896

Condition and significance breakdown #

Total conditions: 46
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 29 12 865 656 34 0 1595
not provided 8 6 153 121 44 0 311
Inborn genetic diseases 0 0 122 17 0 0 139
Autosomal dominant nonsyndromic hearing loss 1 4 2 86 23 19 0 134
not specified 0 0 28 43 27 0 91
DIAPH1-related disorder 0 2 17 25 3 0 47
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 8 2 11 1 1 1 24
Familial cancer of breast 0 0 0 0 0 7 7
Nonpapillary renal cell carcinoma 0 0 0 0 0 6 6
Ovarian serous cystadenocarcinoma 0 0 0 0 0 6 6
Colon adenocarcinoma 0 0 0 0 0 4 4
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 4 4
Uterine corpus endometrial carcinoma 0 0 0 0 0 4 4
Acute myeloid leukemia 0 0 0 0 0 3 3
Cervical cancer 0 0 0 0 0 3 3
Hearing impairment 0 1 2 0 0 0 3
Malignant tumor of esophagus 0 0 0 0 0 3 3
Sarcoma 0 0 0 0 0 3 3
Thymoma 0 0 0 0 0 3 3
Colorectal cancer 0 0 0 0 0 2 2
Gastric cancer 0 0 0 0 0 2 2
Hepatocellular carcinoma 0 0 0 0 0 2 2
Intellectual disability 0 0 2 0 0 0 2
Lung cancer 0 0 0 0 0 2 2
Lymphoma 0 0 0 0 0 2 2
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 2 2
Melanoma 0 0 0 0 0 2 2
Neonatal seizure 0 2 0 0 0 0 2
Papillary renal cell carcinoma type 1 0 0 0 0 0 2 2
Squamous cell carcinoma of the head and neck 0 0 0 0 0 2 2
Auditory neuropathy spectrum disorder 0 1 0 0 0 0 1
Beta-D-mannosidosis 0 0 0 1 0 0 1
Cholangiocarcinoma 0 0 0 0 0 1 1
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome 0 0 0 0 0 1 1
Deafness 1 0 0 0 0 0 1
Epilepsy; Global developmental delay; Failure to thrive; Microcephaly 0 1 0 0 0 0 1
Familial pancreatic carcinoma 0 0 0 0 0 1 1
Hearing impairment; Macrothrombocytopenia 0 1 0 0 0 0 1
Macrothrombocytopenia 0 1 0 0 0 0 1
Malignant tumor of urinary bladder 0 0 0 0 0 1 1
Microcephaly 0 0 1 0 0 0 1
Pendred syndrome 0 1 0 0 0 0 1
Rare genetic deafness 1 0 0 0 0 0 1
See cases 0 0 0 1 0 0 1
Uterine carcinosarcoma 0 0 0 0 0 1 1
Vascular dementia 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 63
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 29 12 862 656 34 0 1593
GeneDx 7 0 110 78 40 0 235
Ambry Genetics 0 0 122 17 0 0 139
Illumina Laboratory Services, Illumina 0 0 74 19 17 0 110
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 18 27 17 0 63
PreventionGenetics, part of Exact Sciences 0 2 17 26 9 0 54
CeGaT Center for Human Genetics Tuebingen 2 2 12 29 4 0 49
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 44 44
Mayo Clinic Laboratories, Mayo Clinic 0 0 12 13 14 0 39
Breakthrough Genomics, Breakthrough Genomics 0 0 7 15 0 0 22
Eurofins Ntd Llc (ga) 1 0 10 2 4 0 17
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 6 5 4 0 15
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 6 5 0 0 11
Fulgent Genetics, Fulgent Genetics 0 0 5 3 2 0 10
Revvity Omics, Revvity 0 2 8 0 0 0 10
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 9 0 0 0 9
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 5 1 0 6
OMIM 6 0 0 0 0 0 6
Athena Diagnostics 0 0 1 1 3 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 3 0 5
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 0 2 2 1 0 0 5
Baylor Genetics 1 1 2 0 0 0 4
Genetic Services Laboratory, University of Chicago 0 0 3 1 0 0 4
3billion 2 0 0 1 0 0 3
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 2 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 3 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 2 0 3
Mendelics 0 0 2 1 0 0 3
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 3 0 3
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 2 0 0 0 2
Dasa 1 1 0 0 0 0 2
Dubai Health Genomic Medicine Center, Dubai Health 1 0 0 1 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 0 1 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
Institute of Human Genetics, University of Wuerzburg 0 2 0 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 1 1 0 2
Laboratory of Prof. Karen Avraham, Tel Aviv University 0 1 1 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 0 0 0 1
Department of Otolaryngology, Head and Neck Surgery, Beijing Friendship Hospital, Capital Medical University 0 1 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 1 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 0 0 0 0 0 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 0 0 0 1 0 0 1
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences 1 0 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 1 0 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 0 1 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Myllykangas group, University of Helsinki 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1

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