ClinVar Miner

Variants studied for Ehlers-Danlos syndrome, kyphoscoliotic type 1

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
25 4 232 69 28 337

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 25 4 231 69 25 333
LOC112577486, PLOD1 0 0 1 0 1 2
MFN2, PLOD1 0 0 0 0 2 2

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 14 3 176 63 11 267
Illumina Clinical Services Laboratory,Illumina 0 0 62 8 17 87
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 7 7 19 34
OMIM 10 0 0 0 0 10
Baylor Genetics 3 0 4 0 0 7
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 2 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 3
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 1

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