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 64 129 53 1 222

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 1 2 33 54 38 1 124
not specified 0 0 17 83 23 0 112
Mental retardation 3, X-linked 6 0 11 2 0 0 19
Inborn genetic diseases 1 0 5 0 0 0 6
Intellectual disability 1 0 0 0 0 0 1
Kabuki syndrome 1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 0 2 16 74 24 0 116
Invitae 0 0 8 42 36 0 86
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 10 3 0 0 13
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 1 3 2 0 7
Ambry Genetics 1 0 5 0 0 0 6
OMIM 5 0 0 0 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 2 0 0 3
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 1 0 0 0 2
Mayo Clinic Genetic Testing 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,Strasbourg University Hospital 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 0 0 1

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