ClinVar Miner

Variants studied for 3MC syndrome 1

Coded as:
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 total
11 5 39 32 30 110

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 9 5 35 32 28 102
LOC108281160, MASP1 0 0 3 0 1 4
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: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 4 0 24 28 27 83
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 2 4 6
OMIM 5 0 0 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 5 0 0 5
Fulgent Genetics, Fulgent Genetics 0 0 2 2 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 3 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 2 0 0 3
Baylor Genetics 0 0 2 0 0 2
Centogene AG - the Rare Disease Company 0 1 1 0 0 2
Revvity Omics, Revvity 0 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Autoinflammatory diseases unit, CHU de Montpellier 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 0 0 1 0 0 1

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