ClinVar Miner

Variants studied for Familial hypercholesterolemia

Coded as:
Minimum submission review status: Collection method:
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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 association not provided total
988 549 1496 1508 237 1 3 4339

Gene and significance breakdown #

Total genes and gene combinations: 22
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
LDLR 942 514 868 862 95 0 1 2876
PCSK9 9 5 454 346 43 1 0 840
APOB 2 9 68 248 78 0 1 393
LDLRAP1 9 11 51 12 3 0 0 85
APOB, LOC106560211 0 1 16 15 13 0 0 44
LDLR, MIR6886 8 3 7 16 2 0 1 33
LDLRAP1, LOC129929773 5 3 10 2 0 0 0 20
APOE 1 3 12 2 0 0 0 18
APOB, APOB3'MAR 0 0 8 5 2 0 0 15
C19orf38, CARM1, DNM2, LDLR, MIR199A1, SMARCA4, TIMM29, TMED1, YIPF2 1 0 1 0 0 0 0 2
PIP5K1B 2 0 0 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
CYP3A4 1 0 0 0 0 0 0 1
HACL1 1 0 0 0 0 0 0 1
INPP5F 1 0 0 0 0 0 0 1
ITPR2 1 0 0 0 0 0 0 1
LDLR, LOC126862855 0 0 0 0 1 0 0 1
PIBF1 1 0 0 0 0 0 0 1
PLA1A 1 0 0 0 0 0 0 1
PLCB4 1 0 0 0 0 0 0 1
SLC27A2 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Labcorp Genetics (formerly Invitae), Labcorp 861 220 410 738 84 0 0 2313
Color Diagnostics, LLC DBA Color Health 136 105 912 712 62 0 0 1927
GENinCode PLC 60 27 0 371 151 0 0 609
Natera, Inc. 110 99 186 59 15 0 0 469
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 223 74 0 0 0 0 0 297
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 101 55 125 10 5 0 0 296
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 57 70 20 0 0 0 0 147
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 9 18 0 0 0 0 28
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine 3 13 11 0 0 0 0 27
Clinical Genetics Laboratory, Skane University Hospital Lund 3 8 0 0 0 0 0 11
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 8 3 0 0 0 0 0 11
Amrita Institute of Medical Sciences and Research Centre, Amrita Vishwa Vidyapeetham 3 0 7 0 0 0 0 10
Research Laboratories, P. D. Hinduja Hospital & MRC 10 0 0 0 0 0 0 10
LDLR-LOVD, British Heart Foundation 0 2 5 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
Molecular Genetics, Royal Melbourne Hospital 1 1 0 0 1 0 0 3
Clinical Genomic Analysis (GENYSIS) Core, University of North Carolina at Chapel Hill 0 2 0 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
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 0 0 0 1 0 1
Department of Medical Genomics, Royal Prince Alfred Hospital 0 1 0 0 0 0 0 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
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 1
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
Mendelics 0 0 1 0 0 0 0 1

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