ClinVar Miner

Variants in gene UNC13D

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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
40 11 296 112 54 471

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Familial hemophagocytic lymphohistiocytosis 3 35 9 293 86 40 431
not provided 9 2 11 23 5 48
not specified 0 0 1 16 27 44
Familial hemophagocytic lymphohistiocytosis 0 0 1 0 1 2

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 29 6 216 88 24 363
Illumina Clinical Services Laboratory,Illumina 2 1 96 9 22 130
PreventionGenetics, PreventionGenetics 0 0 0 14 27 41
GeneDx 4 2 3 1 0 10
Baylor Genetics 0 0 9 0 0 9
OMIM 8 0 0 0 0 8
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 6 1 0 8
Mendelics 1 0 1 3 2 7
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 1 1 4 6
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 0 3 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 5 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 1 0 1 3
Fulgent Genetics,Fulgent Genetics 1 0 1 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 2
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 2 0 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 2 0 0 2
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
Clinical laboratory, Wuhan Children’s Hospital,Tongji Medical College, Huazhong University of Science and Technology 0 1 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 1 0 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 0 0 0 1 0 1

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