ClinVar Miner

Variants in gene HLCS

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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
93 112 294 490 84 959

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Holocarboxylase synthetase deficiency 89 110 265 430 50 865
not provided 8 4 22 52 43 124
not specified 0 0 9 34 24 63
Inborn genetic diseases 2 0 23 5 0 30
HLCS-related condition 0 0 0 2 2 4

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 83 16 133 414 35 681
GeneDx 6 4 10 64 60 144
Illumina Laboratory Services, Illumina 1 0 107 12 18 138
Natera, Inc. 7 3 37 13 14 74
Baylor Genetics 17 39 1 0 0 57
Myriad Genetics, Inc. 0 39 1 0 0 40
Counsyl 3 18 13 0 0 34
Ambry Genetics 2 0 23 5 0 30
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 10 4 8 1 1 24
CeGaT Center for Human Genetics Tuebingen 0 0 6 11 2 19
PreventionGenetics, part of Exact Sciences 0 0 0 5 8 13
Revvity Omics, Revvity 2 3 6 0 0 11
Genome-Nilou Lab 0 0 3 1 7 11
Fulgent Genetics, Fulgent Genetics 3 1 5 1 0 10
OMIM 9 0 0 0 0 9
Eurofins Ntd Llc (ga) 1 0 2 0 2 5
Clinical Genetics, Academic Medical Center 0 0 0 1 3 4
Mendelics 2 1 0 0 0 3
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 0 2 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 0 3
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 3 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 1 1 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 2
SingHealth Duke-NUS Institute of Precision Medicine 1 0 1 0 0 2
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital 1 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 1
Genetic Services Laboratory, University of Chicago 0 0 0 1 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 0 1
Pars Genome Lab 0 0 0 1 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1

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