ClinVar Miner

Variants studied for dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema

Included ClinVar conditions (2):
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 likely pathogenic, low penetrance total
13 4 19 16 36 1 87

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign likely pathogenic, low penetrance total
PIEZO1 8 3 12 10 22 1 55
HSALR1, PIEZO1 4 1 4 5 12 0 25
HSALR1, LOC130059751, PIEZO1 0 0 0 1 2 0 3
LOC100289580, PIEZO1 0 0 3 0 0 0 3
KCNN4 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign likely pathogenic, low penetrance total
Genome-Nilou Lab 0 0 0 0 34 0 34
Fulgent Genetics, Fulgent Genetics 0 0 2 15 1 0 18
OMIM 9 0 0 0 0 0 9
Baylor Genetics 1 0 5 0 0 0 6
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 3 0 0 0 3
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 2 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 0 0 1 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 0 1 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Coyote Medical Laboratory (Beijing), Coyote 0 0 1 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Unidade de Eritropatologia e Metabolismo do Ferro, Centro Hospitalar e Universitário de Coimbra 1 0 0 0 0 0 1
UOS Fisiopatologia delle Anemie, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano 1 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
DASA 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Digital Health - Machine Learning, Hasso Plattner Institute 0 0 0 0 0 1 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 0 1 0 0 0 1

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