ClinVar Miner

Variants studied for Congenital cataracts-facial dysmorphism-neuropathy syndrome

Coded as:
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
2 0 6 2 6 1 16

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic uncertain significance likely benign benign not provided total
CTDP1 1 6 2 6 1 15
GJA3 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic uncertain significance likely benign benign not provided total
Revvity Omics, Revvity Omics 0 3 0 0 0 3
Fulgent Genetics, Fulgent Genetics 0 1 1 1 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 3 0 3
Genome-Nilou Lab 0 0 0 2 0 2
OMIM 1 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 0 0 0 1
Mendelics 0 0 0 1 0 1
GeneReviews 0 0 0 0 1 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 0 0 0 1

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