ClinVar Miner

Variants studied for Cutis laxa with osteodystrophy

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
9 4 99 9 45 9 171

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ATP6V0A2 9 2 91 8 42 8 157
ATP6V0A2, LOC130009117 0 1 5 1 1 0 8
ATP6V0A2, LOC126861666 0 1 3 0 1 1 5
ATP6V0A2, LOC130009117, TCTN2 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 93 9 41 0 143
GeneReviews 1 0 0 0 1 9 11
Genome-Nilou Lab 0 0 0 0 7 0 7
OMIM 4 0 0 0 0 0 4
Baylor Genetics 0 0 3 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 1 0 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 1 0 0 0 0 2
Division of Biology and Genetics, University of Brescia 2 0 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 0 0 0 1
Hainan Provincial Key Laboratory for Human Reproductive Medicine and Genetic Research 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1

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