ClinVar Miner

Variants studied for HSD10 disease, atypical type

Included ClinVar conditions (1):
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
8 9 10 0 0 1 27

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance not provided total
HSD17B10 8 9 10 1 27

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance not provided total
OMIM 8 0 0 0 8
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 3
Baylor Genetics 0 1 1 0 2
Revvity Omics, Revvity 0 0 2 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 2
Elsea Laboratory, Baylor College of Medicine 0 1 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 1 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 1
GenomeConnect, ClinGen 0 0 0 1 1
Breda Genetics srl 0 1 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 1
New York Genome Center 0 1 0 0 1
Lab of Hepatology and Endocrinology, Hunan Children's Hospital 0 1 0 0 1

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