ClinVar Miner

Variants studied for Ataxia-pancytopenia syndrome

Coded as:
Minimum submission review status: Collection method:
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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
5 8 48 0 0 5 57

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance not provided total
SAMD9L 5 8 47 5 56
SAMD9 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance not provided total
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 2 23 0 26
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 6 0 7
Johns Hopkins Genomics, Johns Hopkins University 0 0 5 0 5
GeneReviews 0 0 0 4 4
Neuberg Centre For Genomic Medicine, NCGM 0 0 4 0 4
OMIM 4 0 0 0 4
3billion 0 2 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 2
New York Genome Center 0 0 2 0 2
University of Washington Center for Mendelian Genomics, University of Washington 0 2 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 2
Baylor Genetics 0 0 1 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 1
GenomeConnect, ClinGen 0 0 0 1 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 1
Mendelics 1 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 0 1 0 0 1

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