ClinVar Miner

Variants in gene DNAAF3

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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
29 12 173 164 32 383

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Primary ciliary dyskinesia 26 8 148 146 14 332
not provided 1 1 13 14 19 44
Primary ciliary dyskinesia 2 6 4 9 3 2 24
Inborn genetic diseases 0 0 21 1 0 22
not specified 0 0 3 6 4 13
DNAAF3-related condition 0 0 2 10 0 12

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 23 7 134 141 10 315
Ambry Genetics 3 0 45 30 7 85
GeneDx 0 0 3 8 17 28
PreventionGenetics, part of Exact Sciences 0 0 2 16 4 22
CeGaT Center for Human Genetics Tuebingen 0 0 4 3 2 9
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 3 2 6
Revvity Omics, Revvity 0 2 4 0 0 6
Eurofins Ntd Llc (ga) 0 0 5 0 1 6
Fulgent Genetics, Fulgent Genetics 2 0 3 0 0 5
Illumina Laboratory Services, Illumina 0 0 4 0 0 4
OMIM 3 0 0 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 2 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 1 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 1 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 1

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