ClinVar Miner

Variants studied for congenital hypotrichosis with juvenile macular dystrophy

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 total
9 2 4 0 9 24

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
CDH3 9 2 4 9 24

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance benign total
Genome-Nilou Lab 0 0 0 9 9
Fulgent Genetics, Fulgent Genetics 0 0 3 0 3
Medical Genetics UMG, Mater Domini University Hospital/ Magna Graecia University of Catanzaro 3 0 0 0 3
Sharon lab, Hadassah-Hebrew University Medical Center 2 1 0 0 3
OMIM 2 0 0 0 2
Laboratorio de Imunogenetica e Histocompatibilidade, Universidade Federal do Parana 2 0 0 0 2
Baylor Genetics 0 0 1 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 1

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