ClinVar Miner

Variants studied for Marie Unna hereditary hypotrichosis

Included ClinVar conditions (5):
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
18 0 106 15 44 181

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic uncertain significance likely benign benign total
HR 17 105 15 44 180
EPS8L3 1 1 0 0 1

Submitter and significance breakdown #

Total submitters: 5
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Submitter pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 104 15 44 163
OMIM 16 1 0 0 17
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 1

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