ClinVar Miner

Variants studied for 3MC syndrome

Included ClinVar conditions (3):
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 total
18 0 7 0 2 27

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic uncertain significance benign total
MASP1 8 6 2 16
COLEC11 6 1 0 7
COLEC10 2 0 0 2
ADIPOQ, AHSG, CRYGS, DNAJB11, EIF4A2, FETUB, HRG, KNG1, MASP1, RFC4, RPL39L, RTP1, SNORA63, SNORA81, ST6GAL1, TBCCD1 1 0 0 1
COLEC10, LOC101927513 1 0 0 1

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic uncertain significance benign total
OMIM 14 0 0 14
Invitae 3 2 1 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 2 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 1 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 1

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