ClinVar Miner

Variants in gene PIEZO1

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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 total
17 10 75 118 95 303

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 4 2 25 110 56 195
none provided 1 0 25 7 53 86
not specified 0 0 14 2 7 23
Lymphedema, hereditary, III 7 3 3 0 1 14
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 8 1 4 0 1 13
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; Lymphedema, hereditary, III 0 1 1 0 0 2
Hydrops fetalis 0 0 2 0 0 2
Inborn genetic diseases 1 1 0 0 0 2
Non-immune hydrops fetalis 0 1 1 0 0 2
Polyhydramnios; Thickened nuchal skin fold; Hydrops fetalis 0 0 2 0 0 2
See cases 0 0 1 0 0 1
Thickened nuchal skin fold; Hydrops fetalis 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 2 0 1 110 52 165
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 47 9 58 115
OMIM 13 0 0 0 0 13
GeneDx 1 1 9 0 2 13
Baylor Genetics 1 0 5 0 0 6
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 6 0 0 6
Center for Reproductive Medicine, Peking University Third Hospital 0 1 4 0 0 5
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 4 4
CeGaT Praxis fuer Humangenetik Tuebingen 1 1 1 0 0 3
Ambry Genetics 1 1 0 0 0 2
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 2 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 1 0 2
Genomic Medicine Lab, University of California San Francisco 0 1 1 0 0 2
Medical Genetics Unit,Sapienza University of Rome 2 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 0 1 1
Mendelics 0 0 0 0 1 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 0 1 1
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
Coyote Medical Laboratory (Beijing),Coyote 0 0 1 0 0 1
Al Jalila Children's Genomics Center,Al Jalila Childrens Speciality Hospital 0 0 1 0 0 1

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