ClinVar Miner

Variants studied for Multiple endocrine neoplasia, type 1

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
100 45 235 144 23 4 537

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MEN1 100 31 235 144 23 4 523
RET 0 14 0 0 0 0 14

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 76 16 226 136 21 0 475
OMIM 28 0 0 0 0 0 28
Integrated Genetics/Laboratory Corporation of America 3 11 1 1 0 4 20
Counsyl 0 2 6 9 2 0 19
Mendelics 2 2 12 0 0 0 16
Database of Curated Mutations (DoCM) 0 14 0 0 0 0 14
Center for Human Genetics, Inc 4 3 1 1 0 0 9
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 3 0 0 0 0 0 3
Fulgent Genetics 0 0 3 0 0 0 3
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 0 0 0 0 1
CSER_CC_NCGL; University of Washington Medical Center 0 0 0 1 0 0 1
Center for Human Genetics,University of Leuven 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 1 0 0 0 0 0 1
Department of Laboratory Medicine,Soonchunhyang University Seoul Hospital 1 0 0 0 0 0 1
University of Washington Department of Laboratory Medicine,University of Washington 0 0 0 0 1 0 1

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