ClinVar Miner

Variants in gene DNAH1

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
15 0 139 69 83 304

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic uncertain significance likely benign benign total
SPERMATOGENIC FAILURE 18; Ciliary dyskinesia, primary, 37 7 132 67 75 281
not specified 0 4 2 8 14
SPERMATOGENIC FAILURE 18 7 0 0 0 7
Premature ovarian insufficiency 0 2 0 0 2
Ciliary dyskinesia, primary, 37 1 0 0 0 1
Kartagener syndrome 1 0 0 0 1
not provided 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic uncertain significance likely benign benign total
Invitae 9 132 67 75 283
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 4 1 8 13
OMIM 6 0 0 0 6
Molecular Development Laboratory,Murdoch Childrens Research Institute 0 2 0 0 2
GeneDx 0 0 1 0 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 1 0 0 1
GeneReviews 1 0 0 0 1

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