ClinVar Miner

Variants in gene DIAPH1

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
16 11 258 128 36 417

Condition and significance breakdown #

Total conditions: 16
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Deafness, autosomal dominant 1; Seizures, cortical blindness, and microcephaly syndrome 5 1 157 70 17 250
Deafness, autosomal dominant 1 3 1 83 21 18 126
not specified 0 0 20 35 18 67
not provided 5 2 15 23 6 51
Seizures, cortical blindness, and microcephaly syndrome 5 2 2 0 0 9
Nonsyndromic Hearing Loss, Mixed 0 0 6 2 0 8
Hearing impairment 0 1 2 0 0 3
Neonatal seizure 0 2 0 0 0 2
Beta-D-mannosidosis 0 0 0 1 0 1
Global developmental delay; Failure to thrive; Microcephaly; Seizure disorder 0 1 0 0 0 1
Hearing impairment; Macrothrombocytopenia 0 1 0 0 0 1
Inborn genetic diseases 0 0 1 0 0 1
Macrothrombocytopenia 0 1 0 0 0 1
Microcephaly 0 0 1 0 0 1
Pendred syndrome 0 1 0 0 0 1
Rare genetic deafness 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 5 1 157 78 20 261
Illumina Clinical Services Laboratory,Illumina 0 0 81 21 17 119
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 18 27 16 62
GeneDx 4 0 3 9 5 21
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 10 2 4 17
PreventionGenetics, PreventionGenetics 0 0 0 1 6 7
OMIM 6 0 0 0 0 6
Athena Diagnostics Inc 0 0 1 1 3 5
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center 0 2 2 1 0 5
Baylor Genetics 1 1 2 0 0 4
CeGaT Praxis fuer Humangenetik Tuebingen 1 2 1 0 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 2 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 3 0 0 3
Mendelics 0 0 1 1 0 2
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 2
Institute of Human Genetics,University of Wuerzburg 0 2 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 0 1 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 0 0 1
Ambry Genetics 0 0 1 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 0 1 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 1 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 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 1
New York Genome Center 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.