ClinVar Miner

Variants studied for Familial visceral amyloidosis, Ostertag type

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
17 3 51 15 46 130

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 total
LYZ 5 0 27 5 17 53
FGA 5 2 15 4 19 44
APOA1 5 1 9 6 10 31
B2M 2 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 42 13 42 97
OMIM 15 0 0 0 0 15
Genome-Nilou Lab 0 0 0 0 7 7
Fulgent Genetics, Fulgent Genetics 0 0 3 1 0 4
Mendelics 0 0 1 0 1 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 0 0 2
MGZ Medical Genetics Center 0 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Molecular Medicine Center, Medical University of Sofia 0 0 1 0 0 1
Amyloidosis Center, Boston University School of Medicine 1 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 1 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 1
3billion 0 1 0 0 0 1

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