ClinVar Miner

Variants studied for LCAT deficiency

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
21 16 70 2 2 106

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
LCAT 19 13 61 2 2 92
LCAT, SLC12A4 2 3 7 0 0 12
DTHD1 0 0 1 0 0 1
LCAT, LOC130059254 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 4 12 50 2 0 68
Illumina Laboratory Services, Illumina 0 1 18 1 2 22
OMIM 18 0 0 0 0 18
New York Genome Center 0 0 4 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 1 0 0 2
Genetics Department, Catlab 0 2 0 0 0 2
Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile 2 0 0 0 0 2
3billion 0 0 1 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 1

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