ClinVar Miner

Variants studied for Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
0 0 38 19 11 1 69

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination uncertain significance likely benign benign not provided total
TNXB 37 12 9 1 59
LOC106780803, TNXB 1 7 1 0 9
CYP21A2, TNXB 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 4
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Submitter uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 19 18 11 0 48
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 18 1 0 0 19
GenomeConnect, ClinGen 0 0 0 1 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 1 0 0 0 1

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