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 not provided total
16 1 204 218 109 1 547

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 0 0 1 188 93 1 282
SPERMATOGENIC FAILURE 18; Ciliary dyskinesia, primary, 37 8 0 197 28 9 0 242
not specified 0 0 4 2 8 0 14
SPERMATOGENIC FAILURE 18 7 0 0 0 0 0 7
Premature ovarian insufficiency 0 0 2 0 0 0 2
Ciliary dyskinesia, primary, 37 1 0 0 0 0 0 1
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: 8
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 10 0 197 216 101 0 524
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 1 4 1 8 0 14
OMIM 6 0 0 0 0 0 6
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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