ClinVar Miner

Variants in gene CCDC40

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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
38 13 233 118 66 413

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Primary ciliary dyskinesia 33 6 142 58 47 285
Ciliary dyskinesia, primary, 15 7 6 102 10 22 146
not specified 0 0 4 31 52 85
not provided 6 0 12 33 2 53
Kartagener syndrome 1 1 0 0 0 2
Male infertility 0 0 2 0 0 2
Ciliary dyskinesia, primary, 15; sperm axonema without dynein arms and nexin bridges; axonemas with defects on microtubules 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 33 4 136 84 48 305
Illumina Clinical Services Laboratory,Illumina 1 1 99 10 23 134
PreventionGenetics, PreventionGenetics 0 0 0 25 43 68
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 0 4 6 26 38
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 4 0 6 2 6 18
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 1 2 3 0 0 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 3 2 0 0 5
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 4 1 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 5 5
OMIM 4 0 0 0 0 4
Baylor Genetics 1 0 2 0 0 3
Laboratory of Cell Biology, Institute of Biomedical Sciences Abel Salazar (ICBAS) 1 1 1 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 1 0 2 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 0 2 2
GeneReviews 2 0 0 0 0 2
Fulgent Genetics,Fulgent Genetics 1 0 1 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 2 0 0 0 2
MAGI's Lab - Research,MAGI Group 0 0 2 0 0 2
GeneDx 0 0 1 0 0 1
Mendelics 0 0 0 1 0 1
Lineagen, Inc 1 0 0 0 0 1
Blueprint Genetics 0 0 1 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 0 0 0 1

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