ClinVar Miner

Variants studied for acrofacial dysostosis, Weyers type

Included ClinVar conditions (2):
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
81 29 54 168 99 428

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
EVC2 52 12 24 82 63 232
EVC 28 17 30 83 33 190
EVC, EVC2 1 0 0 3 3 6

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 77 28 44 165 97 411
Illumina Clinical Services Laboratory,Illumina 0 0 6 4 2 12
Fulgent Genetics,Fulgent Genetics 2 1 3 0 0 6
OMIM 4 0 0 0 0 4
Mendelics 0 0 0 0 1 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1

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