ClinVar Miner

Variants studied for Majeed syndrome

Coded as:
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 not provided total
25 16 381 310 57 11 750

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
LPIN2 23 16 379 310 57 11 746
LOC130062090, LOC130062091, LOC130062092, LPIN2 1 0 1 0 0 0 2
EMILIN2, LPIN2, SMCHD1 1 0 0 0 0 0 1
LPIN2, MYL12A, MYL12B, MYOM1, TGIF1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 20 12 236 280 26 0 574
Illumina Laboratory Services, Illumina 0 0 138 21 36 0 195
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 18 30 10 0 58
Revvity Omics, Revvity 0 0 27 0 0 0 27
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
GeneReviews 0 0 0 0 0 6 6
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 3 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 2 1 0 4
OMIM 2 0 0 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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 2 0 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 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
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
Genome-Nilou Lab 0 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1

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