ClinVar Miner

Variants studied for Arterial calcification, generalized, of infancy, 1

Coded as:
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
26 6 115 21 64 4 229

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ENPP1 25 6 115 21 64 4 228
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: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 1 1 107 21 62 0 192
Genomenon, Inc 10 1 4 0 0 0 15
OMIM 13 0 0 0 1 0 14
Baylor Genetics 1 0 3 0 0 0 4
GeneReviews 0 0 0 0 0 4 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 2 0 0 0 0 2
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 2 0 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
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 Institute Rare Disease Group, Broad Institute 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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