ClinVar Miner

Variants studied for arterial calcification of infancy

Included ClinVar conditions (5):
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 not provided total
63 26 224 89 124 4 516

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 not provided total
ABCC6 30 17 99 60 59 0 258
ENPP1 32 9 122 29 65 4 254
ABCC6, LOC125146421 0 0 3 0 0 0 3
CCN2, CTAGE9, ENPP1, ENPP3, LINC01013, LOC111365199, LOC123864069, LOC123864070, LOC126859789, LOC126859790, LOC129997167, LOC129997168, MIR548AJ1, MIR548H5, OR2A4 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 26 15 114 68 8 0 231
Illumina Laboratory Services, Illumina 1 1 107 21 62 0 192
Genome-Nilou Lab 0 0 0 0 59 0 59
OMIM 21 0 0 0 1 0 22
Genomenon, Inc 15 1 4 0 0 0 20
Baylor Genetics 3 0 6 0 0 0 9
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 3 1 0 0 0 6
GeneReviews 0 0 0 0 0 4 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 2 0 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 2 0 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 1 1 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 0 2
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 0 1
Clinical Genetics Laboratory, CHRU Nancy 0 1 0 0 0 0 1
Institute for Cardiogenetics, University of Luebeck 1 0 0 0 0 0 1

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