ClinVar Miner

Variants studied for Multiple endocrine neoplasia, type 2

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 total
73 19 1548 1115 64 2778

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
RET 73 19 1513 1093 61 2720
LOC106736614, RET 0 0 29 8 0 36
LOC130003710, RET 0 0 4 14 0 17
LOC110121502, MCS+9.7, RET 0 0 0 0 3 3
LOC106736614, LOC110121502, LOC130003705, LOC130003706, LOC130003707, LOC130003708, LOC130003709, LOC130003710, MCS+9.7, RET 0 0 2 0 0 2

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 73 13 1469 1074 63 2692
All of Us Research Program, National Institutes of Health 7 4 361 177 4 553
Color Diagnostics, LLC DBA Color Health 3 3 8 17 16 47
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 5 1 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 5 0 0 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 0 0 0 0 5
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 4 5
CSER _CC_NCGL, University of Washington 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 1 0 0 0 0 1

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