ClinVar Miner

Variants studied for hepatic veno-occlusive disease

Included ClinVar conditions (2):
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 not provided total
30 11 225 146 39 6 432

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SP110 15 9 118 66 17 0 215
SP110, SP140 15 2 107 78 22 6 215
LOC129935748, SP110, SP140 0 0 0 2 0 0 2

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 27 3 192 138 37 0 397
Illumina Laboratory Services, Illumina 0 0 39 6 19 0 64
Genome-Nilou Lab 0 0 0 0 7 0 7
GeneReviews 1 0 0 0 0 5 6
Baylor Genetics 0 1 4 0 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 5 0 0 0 5
Revvity Omics, Revvity 1 2 1 0 0 0 4
OMIM 2 0 0 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 0 2 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1

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