ClinVar Miner

Variants studied for 3-hydroxy-3-methylglutaryl-CoA synthase deficiency

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 total
32 19 108 70 13 223

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 total
HMGCS2 30 19 100 67 13 210
HMGCS2, LOC122094910 2 0 8 0 0 10
HMGCS2, PHGDH 0 0 0 3 0 3

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 21 1 86 62 9 179
Illumina Laboratory Services, Illumina 0 1 30 9 6 46
OMIM 10 0 0 0 0 10
Department of Endocrinology, Metabolism and Genetics, Henan Children's Hospital, Children's Hospital Affiliated to Zhengzhou University 5 5 0 0 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 3 1 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 3 3
Baylor Genetics 1 0 1 0 0 2
Revvity Omics, Revvity Omics 0 2 0 0 0 2
Centre de Genetique Humaine, Institut de Pathologie et de Genetique 0 2 0 0 0 2
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 2 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 2 0 0 0 2
Genomics, and Precision Dentistry Research Unit, Faculty of Dentistry, Chulalongkorn University 1 1 0 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 2 0 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 2 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 1 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 0 0 1
IRCCS Fondazione Stella Maris, University of Pisa 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 1
New York Genome Center 0 1 0 0 0 1
3billion 0 1 0 0 0 1

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