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 total
14 7 214 97 36 338

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Deafness, autosomal dominant 1; Seizures, cortical blindness, and microcephaly syndrome 3 0 113 31 17 164
Deafness, autosomal dominant 1 3 1 75 19 18 116
not specified 0 0 19 35 18 66
not provided 5 2 15 23 6 51
Nonsyndromic Hearing Loss, Mixed 0 0 9 2 0 11
Seizures, cortical blindness, and microcephaly syndrome 5 1 1 0 0 7
Global developmental delay; Failure to thrive; Microcephaly; Seizure disorder 0 1 0 0 0 1
Global developmental delay; Large for gestational age 0 0 1 0 0 1
Hearing impairment; Macrothrombocytopenia 0 1 0 0 0 1
Hypertelorism; Lymphangiectasis; Bilateral sensorineural hearing impairment; Low-set ears; Abnormal facial shape; Abnormality of the intestine 0 0 1 0 0 1
Inborn genetic diseases 0 0 1 0 0 1
Macrothrombocytopenia 0 1 0 0 0 1
Neurodevelopmental disorder 0 0 1 0 0 1
Rare genetic deafness 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 3 0 113 48 20 184
Illumina Clinical Services Laboratory,Illumina 0 0 81 19 17 117
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 2 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
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 0 0 2
Baylor Genetics 1 0 0 0 0 1
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
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

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