ClinVar Miner

Variants studied for Hyaline fibromatosis 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 total
14 7 103 15 31 169

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
ANTXR2 14 7 103 15 31 169

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 102 15 29 146
OMIM 8 0 0 0 0 8
Baylor Genetics 3 1 1 0 0 5
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 3 1 0 0 0 4
Nilou-Genome Lab 0 0 0 0 4 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
Mendelics 0 0 0 0 1 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 1
Clinical Genetics Department,Hospital Sant Joan de Deu 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 0 0 0 1

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