ClinVar Miner

Variants studied for Majeed syndrome

Included ClinVar conditions (1):
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
26 18 392 354 57 11 804

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 24 18 389 354 57 11 799
EMILIN2, LPIN2, SMCHD1 1 0 1 0 0 0 2
LOC130062090, LOC130062091, LOC130062092, LPIN2 1 0 1 0 0 0 2
LPIN2, MYL12A, MYL12B, MYOM1, TGIF1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 21 14 242 325 26 0 628
Illumina Laboratory Services, Illumina 0 0 138 21 36 0 195
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 26 31 12 0 69
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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 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
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 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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