ClinVar Miner

Variants studied for Lymphatic malformation 6

Coded as:
Minimum submission review status: Collection method:
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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 total
17 14 53 2 35 120

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PIEZO1 12 11 35 1 21 79
HSALR1, PIEZO1 5 3 17 1 12 38
HSALR1, LOC130059751, PIEZO1 0 0 1 0 2 3

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Clinical Genomics Laboratory, Washington University in St. Louis 0 2 40 0 0 42
Genome-Nilou Lab 0 0 0 0 34 34
OMIM 7 0 0 0 0 7
Baylor Genetics 1 1 4 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 3 1 0 6
Mendelics 0 0 1 0 2 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 1 2 0 0 0 3
MGZ Medical Genetics Center 0 0 2 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 1 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 1 0 1 0 2
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 1 1 0 0 0 2
New York Genome Center 0 2 0 0 0 2
Medical Genetics Unit, Sapienza University of Rome 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 0 1 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 1
3billion, Medical Genetics 1 0 0 0 0 1

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