ClinVar Miner

Variants studied for sitosterolemia

Included ClinVar conditions (6):
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
45 20 323 135 54 536

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ABCG5, DYNC2LI1 22 12 147 84 21 262
ABCG8 17 5 112 5 21 154
ABCG5 5 2 57 43 8 107
ABCG5, ABCG8 1 1 6 3 4 12
ABCG5, ABCG8, DYNC2LI1, LRPPRC 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 21 7 120 122 22 292
Illumina Laboratory Services, Illumina 3 1 128 13 32 173
Revvity Omics, Revvity 8 2 86 2 0 98
New York Genome Center 1 2 27 0 0 30
Fulgent Genetics, Fulgent Genetics 2 0 20 4 1 27
OMIM 18 0 0 0 0 18
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 5 1 7 0 0 13
Genome-Nilou Lab 0 0 0 0 12 12
Genetics and Molecular Pathology, SA Pathology 1 2 1 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 3 0 1 0 0 4
Amrita Institute of Medical Sciences and Research Centre, Amrita Vishwa Vidyapeetham 0 1 3 0 0 4
Baylor Genetics 1 0 2 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 1 0 0 0 3
Mendelics 0 0 1 0 2 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 1 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 1 2 0 0 3
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 3 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 0 0 0 2
Blueprint Genetics 0 1 0 0 0 1
Pediatric Genetics Division, Center for Pediatrics and Adolescent Medicine, University Medical Center Freiburg 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 0 0 0 0 1
UOS Fisiopatologia delle Anemie, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 1
Arcensus 0 1 0 0 0 1
KardioGenetik, Herz- und Diabeteszentrum NRW 0 0 1 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 1
Department of Genetics, Suzhou Beikang Medical Laboratory 1 0 0 0 0 1

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