ClinVar Miner

Variants studied for Multiple endocrine neoplasia, type 2a

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
47 18 118 47 9 1 220

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
RET 47 18 117 46 9 1 218
LOC106736614, RET 0 0 1 0 0 0 1
LOC110121502, MCS+9.7, RET 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 7 2 84 45 6 0 144
Mendelics 1 0 43 2 2 0 48
Research and Development, ARUP Laboratories 23 0 0 0 0 0 23
OMIM 18 0 0 0 0 0 18
Database of Curated Mutations (DoCM) 0 14 0 0 0 0 14
Center for Human Genetics, Inc 3 0 2 0 0 0 5
Integrated Genetics/Laboratory Corporation of America 2 0 2 0 1 0 5
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 3 1 0 0 0 0 4
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 3 0 0 0 0 0 3
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
CSER_CC_NCGL; University of Washington Medical Center 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 1 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 0 1

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