ClinVar Miner

Variants studied for Familial hypercholesterolemia

Coded as:
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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 association not provided total
684 291 1030 1087 141 1 2 3006

Gene and significance breakdown #

Total genes and gene combinations: 12
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
LDLR 669 280 630 775 71 0 2 2204
PCSK9 2 3 335 261 33 1 0 632
APOB 2 4 8 14 27 0 0 53
LDLRAP1 3 1 25 11 3 0 0 43
LDLR, MIR6886 6 2 6 13 2 0 0 27
APOB, LOC106560211 0 0 13 8 3 0 0 24
APOB, APOB3'MAR 0 0 8 3 1 0 0 12
LDLRAP1, LOC129929773 2 0 2 2 0 0 0 6
APOE 0 1 1 0 0 0 0 2
ABCA1 0 0 1 0 0 0 0 1
C19orf38, CARM1, DNM2, LDLR, MIR199A1, SMARCA4, TIMM29, TMED1, YIPF2 0 0 1 0 0 0 0 1
LDLR, LOC126862855 0 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Invitae 652 165 339 669 69 0 0 1894
Color Diagnostics, LLC DBA Color Health 111 79 675 581 62 0 0 1508
Natera, Inc. 43 15 112 57 15 0 0 242
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 119 30 0 0 0 0 0 149
Cohesion Phenomics 0 0 0 7 34 0 0 41
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 12 11 8 0 0 0 0 31
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 6 21 0 0 0 0 28
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine 1 12 14 0 0 0 0 27
Kazan State Medical University, Kazan State Medical University 1 2 8 0 0 0 0 11
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 5 2 0 0 0 0 0 7
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 2 5 0 0 0 0 0 7
LDLR-LOVD, British Heart Foundation 0 0 2 0 0 0 0 2
DASA 1 1 0 0 0 0 0 2
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 2 0 0 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 1 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 0 1
MVZ Dr. Eberhard & Partner Dortmund 0 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Department of Molecular Innovation in Lipidology, National Cerebral & Cardiovascular Center Reseach Institute 0 0 0 0 1 0 0 1
GBinsight Genetic Testing by GB HealthWatch, Genben Lifesciences Corporation 0 1 0 0 0 0 0 1
Department of Medical Genomics, Royal Prince Alfred Hospital 0 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 1 1
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 0 0 0 1 0 1

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