ClinVar Miner

Variants studied for Holocarboxylase synthetase deficiency

Coded as:
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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
98 130 276 441 56 913

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
HLCS 97 130 274 441 50 904
HLCS, LOC130066639 0 0 1 0 6 7
CBR1, CBR3, CHAF1B, CLDN14, DOP1B, HLCS, MORC3, SETD4, SIM2 0 0 1 0 0 1
CHAF1B, CLDN14, HLCS, MORC3, SIM2 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 94 17 142 425 35 713
Illumina Laboratory Services, Illumina 2 0 107 12 24 145
Natera, Inc. 7 3 37 13 14 74
Baylor Genetics 18 50 1 0 0 69
Myriad Genetics, Inc. 0 39 1 0 0 40
Counsyl 3 18 13 0 0 34
Fulgent Genetics, Fulgent Genetics 4 23 6 1 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
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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 2 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 1 0 0 2
SingHealth Duke-NUS Institute of Precision Medicine 1 0 1 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 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
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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