ClinVar Miner

Variants studied for Familial hypercholesterolemia

Coded as:
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Gene type:
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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
706 295 1031 1087 147 1 2 3039

Gene and significance breakdown #

Total genes and gene combinations: 14
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
LDLR 689 282 631 775 71 0 2 2228
PCSK9 2 3 335 261 35 1 0 634
APOB 2 5 8 14 31 0 0 57
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
C19orf38, CARM1, DNM2, LDLR, MIR199A1, SMARCA4, TIMM29, TMED1, YIPF2 1 0 1 0 0 0 0 2
ABCA1 0 0 1 0 0 0 0 1
AP1M2, ATG4D, C19orf38, CARM1, CDC37, CDKN2D, DNM2, DNMT1, FDX2, ICAM1, ICAM3, ICAM4, ICAM5, ILF3, KEAP1, KRI1, LDLR, MIR199A1, MRPL4, PDE4A, QTRT1, RAVER1, S1PR2, S1PR5, SLC44A2, SMARCA4, TIMM29, TMED1, TYK2, YIPF2, ZGLP1 1 0 0 0 0 0 0 1
CBS 0 1 0 0 0 0 0 1
LDLR, LOC126862855 0 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Invitae 674 167 340 669 69 0 0 1919
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 120 31 0 0 0 0 0 151
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 29 17 8 0 0 0 0 54
Cohesion Phenomics 0 0 0 7 34 0 0 41
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
GENinCode PLC 0 0 0 0 21 0 0 21
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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