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
45 41 193 252 53 535

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
HLCS 45 41 192 252 53 534
CBR1, CBR3, CHAF1B, CLDN14, DOP1B, HLCS, MORC3, SETD4, SIM2 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 40 7 66 237 32 382
Illumina Laboratory Services,Illumina 1 0 108 12 24 145
Natera, Inc. 7 3 37 13 14 74
Counsyl 3 18 14 0 0 35
Myriad Women's Health, Inc. 0 13 1 0 0 14
Genome-Nilou Lab 0 0 3 1 7 11
OMIM 9 0 0 0 0 9
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6 1 0 0 0 7
PerkinElmer Genomics 2 2 0 0 0 4
Mendelics 2 1 0 0 0 3
Fulgent Genetics,Fulgent Genetics 1 0 1 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
Mayo Clinic Laboratories,Mayo Clinic 1 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 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

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