ClinVar Miner

Variants studied for Ehlers-Danlos syndrome, kyphoscoliotic type

Included ClinVar conditions (1):
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
20 4 145 26 21 205

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
PLOD1 20 4 145 26 18 202
MFN2, PLOD1 0 0 0 0 2 2
LOC112577486, PLOD1 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 6 2 98 12 3 121
Illumina Clinical Services Laboratory,Illumina 0 0 45 11 6 62
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 4 3 18 26
OMIM 10 0 0 0 0 10
Baylor Genetics 3 0 1 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 2 0 0 4
Mendelics 1 0 1 0 0 2
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 1

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