ClinVar Miner

Variants in gene DNAH1

Minimum submission review status: Collection method:
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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
22 4 398 256 109 1 784

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 13 2 371 169 99 0 654
not provided 0 0 4 98 3 1 105
Primary ciliary dyskinesia 0 1 15 0 0 0 16
not specified 0 0 4 2 8 0 14
Ciliary dyskinesia, primary, 37 2 0 10 0 0 0 12
Spermatogenic failure 18 9 0 2 0 0 0 11
Premature ovarian insufficiency 0 0 2 0 0 0 2
Kartagener syndrome 1 0 0 0 0 0 1
Non-syndromic male infertility due to sperm motility disorder 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 13 1 371 254 101 0 740
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 15 0 0 0 16
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 4 1 8 0 14
Baylor Genetics 1 0 12 0 0 0 13
OMIM 6 0 0 0 0 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 3 0 0 0 3
Biology Pathology Center,Lille University Hospital 1 1 0 0 0 0 2
Diagnostic Laboratory, Strasbourg University Hospital 2 0 0 0 0 0 2
Reproductive Development, Murdoch Childrens Research Institute 0 0 2 0 0 0 2
GeneDx 0 0 0 1 0 0 1
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 1 0 0 0 1
GeneReviews 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1

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