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
30 19 809 650 68 1 1509

Condition and significance breakdown #

Total conditions: 21
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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 21 6 685 541 33 0 1285
not provided 6 3 85 95 43 0 220
Autosomal dominant nonsyndromic hearing loss 1 4 1 84 22 19 0 130
not specified 0 0 24 32 20 0 74
Inborn genetic diseases 0 0 39 11 0 0 50
DIAPH1-related condition 0 1 12 22 3 0 38
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 6 2 2 0 1 0 11
Nonsyndromic Hearing Loss, Mixed 0 0 6 2 0 0 8
Hearing impairment 0 1 2 0 0 0 3
Neonatal seizure 0 2 0 0 0 0 2
Auditory neuropathy spectrum disorder 0 1 0 0 0 0 1
Beta-D-mannosidosis 0 0 0 1 0 0 1
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome 0 0 0 0 0 1 1
Epilepsy; Global developmental delay; Failure to thrive; Microcephaly 0 1 0 0 0 0 1
Hearing impairment; Macrothrombocytopenia 0 1 0 0 0 0 1
Macrothrombocytopenia 0 1 0 0 0 0 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
Vascular dementia 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 48
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 21 6 683 541 32 0 1283
GeneDx 5 0 58 78 40 0 181
Illumina Laboratory Services, Illumina 0 0 81 21 17 0 119
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 18 27 16 0 62
Ambry Genetics 0 0 39 11 0 0 50
PreventionGenetics, part of Exact Sciences 0 1 12 23 9 0 45
CeGaT Center for Human Genetics Tuebingen 2 2 5 15 4 0 28
Eurofins Ntd Llc (ga) 1 0 10 2 4 0 17
Revvity Omics, Revvity 0 1 8 0 0 0 9
Fulgent Genetics, Fulgent Genetics 0 0 4 3 2 0 9
OMIM 6 0 0 0 0 0 6
Athena Diagnostics Inc 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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 1 2 0 4
Mendelics 0 0 2 1 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 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
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 3 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 2 0 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
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
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
Myllykangas group, University of Helsinki 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 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
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 1 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 0 1 0 0 1
Department of Otolaryngology, Head and Neck Surgery, Beijing Friendship Hospital, Capital Medical University 0 1 0 0 0 0 1

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