ClinVar Miner

Variants studied for Multiple endocrine neoplasia, type 2

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
80 25 1788 1345 72 3225

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 80 24 1750 1319 69 3159
LOC106736614, RET 0 1 32 10 0 42
LOC130003710, RET 0 0 4 16 0 19
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: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 79 17 1655 1264 65 3080
All of Us Research Program, National Institutes of Health 12 7 449 219 4 691
Color Diagnostics, LLC DBA Color Health 6 7 290 248 30 581
Molecular Pathology, Peter Maccallum Cancer Centre 11 1 4 2 0 18
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 8 0 0 0 0 8
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 5 1 0 6
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 4 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 5 0 0 0 0 5
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 1 0 2 0 0 3
CSER _CC_NCGL, University of Washington 1 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 1 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1

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