ClinVar Miner

Variants in gene DNAH14

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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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
1 1 539 58 30 1 621

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not specified 0 0 399 28 23 0 450
not provided 0 0 154 23 29 1 204
DNAH14-related disorder 0 0 4 12 0 0 16
Neurodevelopmental disorder 1 1 5 0 0 0 7
DNAH14-related neurodevelopmental disorder 0 0 3 0 0 0 3
DNAH14-Associated Neurodevelopmental Disorder 0 0 2 0 0 0 2
Seizure; Delayed speech and language development; Microcephaly; Intellectual disability, severe; Hypotonia 0 0 2 0 0 0 2
Non-immune hydrops fetalis 0 0 0 0 1 0 1
See cases 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ambry Genetics 0 0 397 27 0 0 424
GeneDx 0 0 131 0 5 0 136
CeGaT Center for Human Genetics Tuebingen 0 0 9 23 3 0 35
Breakthrough Genomics, Breakthrough Genomics 0 0 1 2 26 0 29
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 1 1 23 0 25
PreventionGenetics, part of Exact Sciences 0 0 4 12 0 0 16
Department of Neurology, Xiangya Hospital Central South University 1 0 5 0 0 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 5 0 0 0 5
New York Genome Center 0 0 5 0 0 0 5
Revvity Omics, Revvity 0 0 3 0 0 0 3
Baylor Genetics 0 0 2 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 2 0 0 0 2
Bionano Laboratories 0 0 2 0 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 2 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 0 0 1 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
ISCA Site 6 0 0 0 1 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1

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