ClinVar Miner

Variants studied for Autosomal recessive severe congenital neutropenia due to CSF3R deficiency

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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
28 8 292 191 25 542

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
CSF3R 28 8 292 191 25 542

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 23 7 288 191 25 534
OMIM 5 0 0 0 0 5
Baylor Genetics 1 0 3 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 4
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 2 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Igenomix - Part of Vitrolife Group, Igenomix 0 1 0 0 0 1

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