ClinVar Miner

Variants in gene HCFC1

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 not provided total
7 2 106 142 53 1 275

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Mental retardation 3, X-linked 6 0 48 31 29 0 113
not specified 0 0 17 83 23 0 112
not provided 1 2 36 43 11 1 92
Inborn genetic diseases 1 0 9 0 0 0 10
Intellectual disability 1 0 2 0 0 0 3
Cobalamin C disease 1 0 0 0 0 0 1
Kabuki syndrome 1 0 0 1 0 0 0 1
Neurodevelopmental abnormality 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 1 0 34 56 36 0 127
GeneDx 0 2 16 74 24 0 116
Genetic Services Laboratory, University of Chicago 0 0 16 22 2 0 40
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 8 2 10 0 20
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 13 5 0 0 18
Ambry Genetics 1 0 9 0 0 0 10
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 1 3 2 0 7
Baylor Genetics 0 0 6 0 0 0 6
OMIM 5 0 0 0 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 2 1 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 2 0 0 0 3
Diagnostic Laboratory, Strasbourg University Hospital 1 0 2 0 0 0 3
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Integrated Genetics/Laboratory Corporation of America 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
UniProtKB/Swiss-Prot 0 0 0 0 0 1 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 1 0 0 0 1

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