ClinVar Miner

Variants studied for Holocarboxylase synthetase deficiency

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
89 110 267 430 56 873

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
HLCS 89 110 265 430 50 865
HLCS, LOC130066639 0 0 1 0 6 7
CBR1, CBR3, CHAF1B, CLDN14, DOP1B, HLCS, MORC3, SETD4, SIM2 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 83 16 134 414 35 682
Illumina Laboratory Services, Illumina 1 0 108 12 24 145
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 10 4 0 0 0 14
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
Mendelics 2 1 0 0 0 3
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
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 1 0 0 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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 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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