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
98 130 279 441 56 917

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 97 130 277 441 50 908
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: 27
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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 1 0 105 12 24 142
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 11 4 0 0 0 15
Genome-Nilou Lab 0 0 3 1 7 11
Revvity Omics, Revvity 2 3 6 0 0 11
OMIM 9 0 0 0 0 9
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 6 0 0 7
Mendelics 2 1 0 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 2 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 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
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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 1
Pars Genome Lab 0 0 0 1 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 1 0 0 0 1

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