ClinVar Miner

Variants in gene PIEZO1

See also:
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 affects likely pathogenic, low penetrance total
31 30 547 427 271 5 1 1107

Condition and significance breakdown #

Total conditions: 16
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign affects likely pathogenic, low penetrance total
not provided 17 18 385 361 267 0 0 887
Inborn genetic diseases 1 1 154 11 0 0 0 167
PIEZO1-related condition 0 5 50 104 8 0 0 167
Lymphatic malformation 6 11 7 11 1 21 0 0 51
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 8 3 9 0 22 0 1 42
not specified 0 0 18 2 18 0 0 38
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; Lymphatic malformation 6 0 1 3 10 0 0 0 14
Blood group, ER 0 0 0 0 0 5 0 5
ER BLOOD GROUP SYSTEM, ER(a-b-) 2 0 0 0 0 0 0 2
Hemolytic anemia 0 0 2 0 0 0 0 2
Hydrops fetalis 0 0 2 0 0 0 0 2
Non-immune hydrops fetalis 0 1 1 0 0 0 0 2
Polyhydramnios; Thickened nuchal skin fold; Hydrops fetalis 0 0 2 0 0 0 0 2
Polyhydramnios; Hydrops fetalis 0 0 1 0 0 0 0 1
See cases 0 0 1 0 0 0 0 1
Thickened nuchal skin fold; Hydrops fetalis 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 57
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects likely pathogenic, low penetrance total
Invitae 10 2 40 212 194 0 0 458
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 6 1 86 108 68 0 0 269
Revvity Omics, Revvity 3 9 176 7 0 0 0 195
GeneDx 3 1 58 28 88 0 0 178
Ambry Genetics 1 1 154 11 0 0 0 167
PreventionGenetics, part of Exact Sciences 0 5 50 104 8 0 0 167
Mayo Clinic Laboratories, Mayo Clinic 1 4 82 0 0 0 0 87
CeGaT Center for Human Genetics Tuebingen 2 1 19 42 13 0 0 77
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 2 13 6 0 0 21
Genome-Nilou Lab 0 0 0 0 21 0 0 21
OMIM 14 0 0 0 0 5 0 18
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 4 9 2 0 0 15
Clinical Genetics, Academic Medical Center 0 0 0 3 10 0 0 13
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 3 0 8 0 2 0 0 13
Fulgent Genetics, Fulgent Genetics 0 0 2 10 0 0 0 12
Baylor Genetics 1 1 6 0 0 0 0 8
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 5 1 0 0 7
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 6 0 0 0 0 6
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 6 0 0 0 0 6
Center for Reproductive Medicine, Peking University Third Hospital 0 1 4 0 0 0 0 5
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 4 0 0 4
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 1 2 0 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 2 0 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 1 0 0 0 0 2
Eurofins Ntd Llc (ga) 0 0 2 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 0 1 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 2 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 0 1 1 0 0 0 0 2
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 1 1 0 0 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 0 2 0 0 0 0 2
Medical Genetics Unit, Sapienza University of Rome 2 0 0 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 0 1 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 0 1
Mendelics 0 0 0 0 1 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 0 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 0 0 1 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 0 1
Coyote Medical Laboratory (Beijing), Coyote 0 0 1 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 0 1
Laboratorio de Genética Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain), Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain) 0 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 0 1
Department of Laboratory Medicine, Yonsei University College of Medicine 0 0 1 0 0 0 0 1
3billion 1 0 0 0 0 0 0 1
DASA 1 0 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 0 1
Digital Health - Machine Learning, Hasso Plattner Institute 0 0 0 0 0 0 1 1
Breakthrough Genomics, Breakthrough Genomics 0 0 1 0 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 0 1 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.