ClinVar Miner

Variants in gene HLCS

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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
35 39 179 146 57 400

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Holocarboxylase synthetase deficiency 32 37 165 107 42 352
not specified 0 0 1 39 26 62
not provided 6 2 16 13 5 42
See cases 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 28 5 38 100 22 193
Illumina Clinical Services Laboratory,Illumina 1 0 108 12 24 145
GeneDx 4 2 6 35 27 74
Natera, Inc. 4 0 17 5 10 36
Counsyl 3 18 14 0 0 35
Myriad Women's Health, Inc. 0 13 0 0 0 13
OMIM 9 0 0 0 0 9
PreventionGenetics, PreventionGenetics 0 0 0 3 6 9
Integrated Genetics/Laboratory Corporation of America 6 1 0 0 0 7
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 6 1 0 7
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 2 0 2 5
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
Baylor Genetics 2 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 1 1 0 2
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
Genetic Services Laboratory, University of Chicago 0 0 0 1 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 0 0 1 0 0 1
Mendelics 0 1 0 0 0 1
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
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 1
Pars Genome Lab 0 0 0 1 0 1

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