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:

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
37 31 111 80 14 252

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
HMGCS2 35 31 103 80 14 242
HMGCS2, LOC122094910 2 0 8 0 0 10

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 25 3 90 75 10 203
Illumina Laboratory Services, Illumina 0 1 27 6 6 40
Department of Endocrinology, Metabolism and Genetics, Henan Children's Hospital, Children's Hospital Affiliated to Zhengzhou University 5 5 0 0 0 10
OMIM 10 0 0 0 0 10
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 5 0 0 0 7
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 2 2 0 0 5
Juno Genomics, Hangzhou Juno Genomics, Inc 0 5 0 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 3 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 3 1 0 0 4
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 2 0 0 0 3
Fulgent Genetics, Fulgent Genetics 0 2 0 1 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 3
Revvity Omics, Revvity 0 2 1 0 0 3
Baylor Genetics 1 0 1 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 2 0 0 0 2
Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University 1 1 0 0 0 2
Centre de Génétique Humaine, Institut de Pathologie Et de Génétique 0 2 0 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 2 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 2 0 0 0 2
Variantyx, Inc. 0 2 0 0 0 2
3billion 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 1
Department of Genetics, Suzhou Beikang Medical Laboratory 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
IRCCS Fondazione Stella Maris, University of Pisa 1 0 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 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
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 0 0 1

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