ClinVar Miner

Variants in gene PHF6

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 other not provided total
35 19 100 81 27 1 3 246

Condition and significance breakdown #

Total conditions: 14
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Borjeson-Forssman-Lehmann syndrome 25 11 48 32 22 0 1 136
not provided 13 4 42 21 11 0 0 85
PHF6-related disorder 0 1 15 29 2 0 0 47
Inborn genetic diseases 4 2 10 7 3 0 0 26
not specified 0 0 1 4 2 0 2 9
Intellectual disability 1 1 0 0 0 0 0 2
See cases 1 0 1 0 0 0 0 2
Developmental disorder 0 0 1 0 0 0 0 1
Global developmental delay 0 0 1 0 0 0 0 1
Hereditary spastic paraplegia 4 1 0 0 0 0 0 0 1
Hirsutism; Intellectual disability 1 0 0 0 0 0 0 1
Neuroblastoma 0 0 0 0 0 1 0 1
Neurodevelopmental abnormality 0 0 1 0 0 0 0 1
Pulmonary arterial hypertension; Bilateral cryptorchidism; Rib fusion; Horseshoe kidney; Macrocephaly; Abnormality of neuronal migration; Enlarged cisterna magna; Hypoplasia of penis 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 62
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Labcorp Genetics (formerly Invitae), Labcorp 7 0 26 34 20 0 0 87
GeneDx 10 2 25 12 11 0 0 60
PreventionGenetics, part of Exact Sciences 0 1 15 29 2 0 0 47
Ambry Genetics 4 2 10 7 3 0 0 26
CeGaT Center for Human Genetics Tuebingen 2 1 6 7 0 0 0 16
Fulgent Genetics, Fulgent Genetics 2 0 12 1 0 0 0 15
OMIM 11 0 0 0 0 0 0 11
Eurofins Ntd Llc (ga) 1 0 4 1 1 0 0 7
Breakthrough Genomics, Breakthrough Genomics 0 0 0 2 3 0 0 5
Genetic Services Laboratory, University of Chicago 0 0 2 1 1 0 0 4
Baylor Genetics 0 0 3 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 3 0 0 3
Revvity Omics, Revvity 0 2 1 0 0 0 0 3
Clinical Genetics, Academic Medical Center 0 0 1 2 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 1 0 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 2 0 0 0 0 3
Wales Gene Park, Division Of Cancer and Genetics, Cardiff University 2 1 0 0 0 0 0 3
ITMI 0 0 0 0 0 0 2 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 1 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 1 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 1 0 0 0 0 2
3billion 2 0 0 0 0 0 0 2
Athena Diagnostics 0 0 1 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 0 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 0 1
Mendelics 0 0 1 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 0 1 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 0 1
Institute of Pediatric Research, Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine 1 0 0 0 0 0 0 1
Scripps Translational Science Institute, Scripps Health and The Scripps Research Institute 1 0 0 0 0 0 0 1
Tgen's Center For Rare Childhood Disorders, Translational Genomics Research Institute (TGEN) 0 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 0 1 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 0 1 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 0 0 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 0 1 0 0 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 0 0 0 0 0 1 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 0 0 1
Human Genetics Laboratory, State University of Rio de Janeiro 1 0 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 1 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 0 0 0 1
Autoinflammatory diseases unit, CHU de Montpellier 1 0 0 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 1 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 0 1
Suma Genomics 1 0 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 1 0 0 0 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.