ClinVar Miner

Variants studied for ciliary dyskinesia, primary, 37

Included ClinVar conditions (3):
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
56 29 830 839 143 1 1883

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DNAH1 56 29 830 839 143 1 1883

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 52 22 820 834 143 0 1871
Fulgent Genetics, Fulgent Genetics 0 3 14 7 2 0 26
Baylor Genetics 1 0 12 0 0 0 13
Johns Hopkins Genomics, Johns Hopkins University 0 2 4 0 0 0 6
Genome-Nilou Lab 0 0 0 0 3 0 3
OMIM 2 0 0 0 0 0 2
Biology Pathology Center, Lille University Hospital 1 1 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 0 0 1
New York Genome Center 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1

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