ClinVar Miner

Variants in gene combination LOC106736614, RET

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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
0 0 40 25 6 63

Condition and significance breakdown #

Total conditions: 13
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Condition uncertain significance likely benign benign total
Hereditary cancer-predisposing syndrome 19 15 1 34
Multiple endocrine neoplasia, type 2 25 7 0 32
not provided 4 5 4 13
Multiple endocrine neoplasia 5 1 2 8
Pheochromocytoma 5 1 2 8
Renal hypodysplasia/aplasia 1 5 2 1 8
Hirschsprung disease, susceptibility to, 1 5 0 1 6
Hirschsprung Disease, Dominant 1 1 1 3
Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia, type 2b; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia, type 2a 2 1 0 3
RET-related condition 1 2 0 3
not specified 2 1 0 3
Malignant tumor of breast 1 0 0 1
Multiple endocrine neoplasia, type 2a 1 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter uncertain significance likely benign benign total
Ambry Genetics 18 14 1 33
Invitae 25 7 0 32
GeneDx 3 4 4 11
Illumina Laboratory Services, Illumina 5 2 2 8
PreventionGenetics, part of Exact Sciences 1 2 0 3
Fulgent Genetics, Fulgent Genetics 2 1 0 3
Sema4, Sema4 1 1 0 2
Baylor Genetics 1 0 0 1
Genetic Services Laboratory, University of Chicago 0 1 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 1
GeneKor MSA 1 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 1 0 0 1
Color Diagnostics, LLC DBA Color Health 0 1 0 1
CeGaT Center for Human Genetics Tuebingen 0 1 0 1
Center of Medical Genetics and Primary Health Care 1 0 0 1

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