ClinVar Miner

Variants in gene DNAAF1

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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 not provided total
49 9 335 232 104 2 647

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Primary ciliary dyskinesia 42 4 277 201 52 0 547
not provided 3 1 30 29 72 0 129
Primary ciliary dyskinesia 13 10 2 73 16 24 0 117
not specified 0 0 5 20 35 0 57
DNAAF1-related disorder 0 3 4 13 0 0 20
Kartagener syndrome 0 0 0 0 0 2 2
Heterotaxy 1 0 0 0 0 0 1
Respiratory ciliopathies including non-CF bronchiectasis 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 41 2 186 173 43 0 445
Ambry Genetics 3 0 140 61 38 0 242
GeneDx 2 0 11 11 67 0 91
Illumina Laboratory Services, Illumina 0 0 54 9 18 0 81
PreventionGenetics, part of Exact Sciences 0 3 4 29 32 0 68
Breakthrough Genomics, Breakthrough Genomics 0 0 5 8 34 0 47
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 4 3 20 0 27
Fulgent Genetics, Fulgent Genetics 0 2 11 4 0 0 17
CeGaT Center for Human Genetics Tuebingen 0 0 5 8 3 0 16
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 3 9 0 14
Eurofins Ntd Llc (ga) 0 0 6 2 4 0 12
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 1 4 0 6
OMIM 5 0 0 0 0 0 5
Mayo Clinic Laboratories, Mayo Clinic 0 0 5 0 0 0 5
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 4 1 0 0 5
Revvity Omics, Revvity 0 0 4 0 0 0 4
GeneReviews 3 0 0 0 0 2 4
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 3 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 1 2 0 4
Johns Hopkins Genomics, Johns Hopkins University 0 0 4 0 0 0 4
Genome-Nilou Lab 0 0 0 0 4 0 4
Baylor Genetics 0 0 3 0 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 2 0 0 0 3
MGZ Medical Genetics Center 1 0 1 0 0 0 2
Yale Center for Mendelian Genomics, Yale University 0 2 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 1 0 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 2 0 0 0 0 0 2
Mendelics 0 0 0 0 1 0 1
Blueprint Genetics 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 1 0 0 0 0 1
Gharavi Laboratory, Columbia University 0 0 1 0 0 0 1
3billion 1 0 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 1
NHS Central & South Genomic Laboratory Hub 1 0 0 0 0 0 1

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