ClinVar Miner

Variants in gene LPIN2

Minimum submission review status: Collection method:
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Gene type:
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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
26 21 471 410 111 11 947

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 24 18 388 354 57 11 799
not provided 4 0 57 69 72 0 192
Autoinflammatory syndrome 0 2 58 13 10 0 83
Inborn genetic diseases 0 0 63 2 0 0 65
not specified 0 0 6 29 25 0 56
LPIN2-related disorder 0 1 5 14 2 0 22
Psoriasis 0 0 0 0 1 0 1
See cases 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 19 14 239 326 26 0 624
Illumina Laboratory Services, Illumina 0 0 136 21 36 0 193
GeneDx 4 0 35 71 66 0 176
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 2 58 13 10 0 83
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 33 32 13 0 78
Ambry Genetics 0 0 63 2 0 0 65
Breakthrough Genomics, Breakthrough Genomics 0 0 1 16 30 0 47
CeGaT Center for Human Genetics Tuebingen 0 0 9 22 8 0 39
Revvity Omics, Revvity 0 0 27 0 0 0 27
PreventionGenetics, part of Exact Sciences 0 1 5 15 4 0 25
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 8 2 0 11
Mayo Clinic Laboratories, Mayo Clinic 0 0 10 0 0 0 10
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 8 1 0 10
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 5 0 0 6
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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 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
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
Department of Human Genetics, Hannover Medical School 0 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 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
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1

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