ClinVar Miner

Variants in gene DNAL1

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
2 2 126 37 16 177

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Primary ciliary dyskinesia 0 1 111 29 12 153
Ciliary dyskinesia, primary, 16 2 1 13 5 1 22
not specified 0 0 1 5 3 9
not provided 0 0 3 0 0 3
Kartagener syndrome 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 111 29 12 152
Invitae 1 1 13 5 1 21
PreventionGenetics 0 0 0 5 3 8
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 1 1 1 4
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 3 0 0 3
OMIM 1 0 0 0 0 1
GeneReviews 1 0 0 0 0 1

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