ClinVar Miner

Variants in gene HCFC1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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 52 87 28 1 159

Condition and significance breakdown #

Total conditions: 6
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not specified 0 0 17 83 23 0 112
not provided 1 2 27 4 2 1 37
Mental retardation 3, X-linked 6 0 5 2 6 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
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 0 2 16 66 22 0 106
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
Invitae 0 0 2 1 6 0 9
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 3 0 0 0 3
Fulgent Genetics 0 0 2 0 0 0 2
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.