ClinVar Miner

Variants studied for familial monosomy 7 syndrome

Included ClinVar conditions (5):
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
6 4 27 11 0 47

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 total
SAMD9 2 1 16 6 25
SAMD9L 4 3 11 5 22

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
Fulgent Genetics, Fulgent Genetics 0 0 4 10 14
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 1 10 0 11
OMIM 6 0 0 0 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 1 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 2 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 3 0 3
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 1
New York Genome Center 0 0 1 0 1
3billion 0 1 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 1

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