ClinVar Miner

Variants studied for Corneal dystrophy-perceptive deafness syndrome

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 total
16 11 14 41 53 135

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SLC4A11 16 11 14 41 53 135

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Natera, Inc. 8 4 14 41 36 103
Genome-Nilou Lab 0 0 0 2 23 25
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 7 0 0 0 9
OMIM 8 0 0 0 0 8
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 1

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