ClinVar Miner

Variants studied for Ehlers-Danlos syndrome type 7B

Included ClinVar conditions (9):
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
20 4 117 28 120 4 287

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 not provided total
COL1A1 10 2 57 15 66 2 150
COL1A2 9 2 60 13 54 2 136
ALB 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 107 28 120 0 255
Fulgent Genetics,Fulgent Genetics 10 1 9 0 0 0 20
OMIM 10 0 0 0 0 0 10
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Baylor Genetics 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 1
Ege University Pediatric Genetics,Ege University 0 0 1 0 0 0 1

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