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
10 3 110 65 20 185

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Nonsyndromic Hearing Loss, Mixed 0 0 49 23 0 72
Deafness, autosomal dominant 1; Seizures, cortical blindness, and microcephaly syndrome 0 0 36 20 14 70
not specified 0 0 19 29 16 58
not provided 5 1 14 2 0 22
Deafness, autosomal dominant 1 3 0 3 0 1 7
Seizures, cortical blindness, and microcephaly syndrome 4 1 1 0 0 6
Global developmental delay; Failure to thrive; Microcephaly; Seizure disorder 0 1 0 0 0 1
Inborn genetic diseases 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 50 23 0 73
Invitae 0 0 36 20 14 70
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 18 21 14 53
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 10 2 4 17
GeneDx 4 0 3 5 4 16
PreventionGenetics 0 0 0 1 6 7
OMIM 6 0 0 0 0 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 2 0 3
Fulgent Genetics 0 0 2 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 1 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 1 0 0 2
Baylor Miraca Genetics Laboratories, 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

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