ClinVar Miner

Variants in gene LPIN2

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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 not provided total
25 16 442 364 111 11 877

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Majeed syndrome 23 15 379 310 57 11 746
not provided 4 0 52 63 55 0 167
Autoinflammatory syndrome 0 1 59 13 10 0 83
not specified 0 0 6 24 25 0 53
Inborn genetic diseases 0 0 24 0 0 0 24
LPIN2-related condition 0 0 3 14 2 0 19
Psoriasis 0 0 0 0 1 0 1
See cases 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 18 12 234 281 26 0 571
Illumina Laboratory Services, Illumina 0 0 138 21 36 0 195
GeneDx 4 0 32 71 66 0 173
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 1 59 13 10 0 83
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 25 31 11 0 67
CeGaT Center for Human Genetics Tuebingen 0 0 9 20 7 0 36
Revvity Omics, Revvity 0 0 27 0 0 0 27
Ambry Genetics 0 0 24 0 0 0 24
PreventionGenetics, part of Exact Sciences 0 0 3 15 4 0 22
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 8 2 0 11
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 8 1 0 10
Mayo Clinic Laboratories, Mayo Clinic 0 0 8 0 0 0 8
Fulgent Genetics, Fulgent Genetics 0 1 6 0 0 0 7
Unité médicale des maladies autoinflammatoires, CHRU Montpellier 0 0 0 0 0 7 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 7 0 0 0 7
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 7 0 7
GeneReviews 0 0 0 0 0 6 6
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 5 0 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 1 1 1 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 1 0 3
OMIM 2 0 0 0 0 0 2
Blueprint Genetics 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 2 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Eurofins Ntd Llc (ga) 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 1 0 1
Cytogenetics and Molecular Genetics Section, Pathology Unit, BARC Hospital, Bhabha Atomic Research Centre 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 0 1 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 0 1 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
Genome-Nilou Lab 0 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1

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