ClinVar Miner

Variants studied for 3MC syndrome 1

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
12 8 43 43 33 132

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 total
MASP1 10 8 38 43 31 123
LOC108281160, MASP1 0 0 4 0 1 5
ADIPOQ, AHSG, CRYGS, DNAJB11, EIF4A2, FETUB, HRG, KNG1, MASP1, RFC4, RPL39L, RTP1, SNORA63, SNORA81, ST6GAL1, TBCCD1 2 0 1 0 0 3
LOC101929130, MASP1 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 5 0 27 38 30 100
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 2 4 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 5 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 3 0 0 5
OMIM 5 0 0 0 0 5
Fulgent Genetics, Fulgent Genetics 0 0 2 2 0 4
3billion 0 1 1 1 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 3 0 0 0 3
Baylor Genetics 0 0 2 0 0 2
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 1 1 0 0 2
Autoinflammatory diseases unit, CHU de Montpellier 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Institute of Human Genetics Munich, TUM University Hospital 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 0 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 1

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