ClinVar Miner

Variants studied for arterial calcification of infancy

Included ClinVar conditions (4):
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
25 3 59 38 30 150

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 total
ENPP1 14 3 58 38 30 138
ABCC6 11 0 1 0 0 12

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 1 1 55 38 27 122
OMIM 20 0 1 0 0 21
Fulgent Genetics 5 0 1 0 0 6
GeneReviews 1 0 0 0 3 4
Baylor Miraca Genetics Laboratories, 0 0 2 0 0 2
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 0 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 1 0 0 0 2
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 1

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