ClinVar Miner

Variants in gene CCDC39

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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
124 53 216 335 59 714

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Primary ciliary dyskinesia 113 26 176 314 27 629
Primary ciliary dyskinesia 14 21 29 55 7 8 116
not provided 10 2 13 23 43 89
not specified 0 0 4 17 14 34
CCDC39-related disorder 2 3 1 13 0 19
Respiratory ciliopathies including non-CF bronchiectasis 1 1 1 0 0 3
Ellis-van Creveld syndrome 0 0 1 0 0 1
Heterotaxy 0 1 0 0 0 1
Infertility disorder 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 45
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 111 14 126 304 23 578
Ambry Genetics 12 4 71 39 15 141
GeneDx 7 1 7 15 40 70
Illumina Laboratory Services, Illumina 0 1 41 6 6 54
PreventionGenetics, part of Exact Sciences 2 3 1 27 12 45
Fulgent Genetics, Fulgent Genetics 8 20 7 2 0 37
Breakthrough Genomics, Breakthrough Genomics 0 0 1 7 15 23
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 4 3 8 15
CeGaT Center for Human Genetics Tuebingen 2 0 0 6 2 10
Yale Center for Mendelian Genomics, Yale University 0 9 0 0 0 9
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 2 2 3 8
Revvity Omics, Revvity 5 0 2 0 0 7
Eurofins Ntd Llc (ga) 2 0 3 1 1 7
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 2 2 0 0 5
OMIM 4 0 0 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 2 1 4
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 0 2 1 0 4
3billion 3 1 0 0 0 4
Baylor Genetics 0 0 3 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 0 0 0 0 3
GeneReviews 3 0 0 0 0 3
Biology Pathology Center, Lille University Hospital 3 0 0 0 0 3
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 2 0 3
NHS Central & South Genomic Laboratory Hub 1 1 1 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 1 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 1 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 2
New York Genome Center 0 0 2 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 0 0 1 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 0 1 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 1
MAGI's Lab - Research, MAGI Group 1 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 1 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 1 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 1

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