ClinVar Miner

Variants studied for Ehlers-Danlos syndrome type 7B

Included ClinVar conditions (5):
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
21 1 40 21 10 1 93

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
COL1A2 9 0 36 21 10 1 76
COL1A1 11 1 4 0 0 0 16
ALB 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 5
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 31 21 10 0 62
Fulgent Genetics 10 1 9 0 0 0 20
OMIM 10 0 0 0 0 0 10
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1

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