ClinVar Miner

Variants studied for Cole-Carpenter syndrome

Included ClinVar conditions (3):
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
11 3 11 7 9 39

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SEC24D 10 2 5 6 9 30
P4HB 1 1 6 1 0 9

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
OMIM 11 0 0 0 0 11
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 4 4 8
Revvity Omics, Revvity 0 0 6 0 0 6
Fulgent Genetics, Fulgent Genetics 0 0 0 3 1 4
Genome-Nilou Lab 0 0 0 0 4 4
Institute of Human Genetics, Cologne University 0 2 1 0 0 3
Baylor Genetics 0 0 2 0 0 2
Mendelics 0 0 0 0 1 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Genetics Department, Polish Mother's Memorial Hospital Research Institute 0 0 1 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 1 0 0 0 1

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