ClinVar Miner

Variants with conflicting interpretations studied for Multiple endocrine neoplasia, type 2

Coded as:
Minimum review status of the submission for Multiple endocrine neoplasia, type 2: Y axis collection method of the submission for Multiple endocrine neoplasia, type 2:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
327 174 5 24 15 1 10 50

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Multiple endocrine neoplasia, type 2 pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 0 23 5 2 1 0
likely pathogenic 5 0 1 2 0 0
uncertain significance 6 0 5 12 1 1
likely benign 0 0 2 0 0 0

Condition to condition summary #

Total conditions: 14
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
Multiple endocrine neoplasia, type 2a 0 104 0 16 5 0 3 23
Medullary thyroid carcinoma 0 4 0 12 0 0 2 14
Multiple endocrine neoplasia, type 2b 0 39 0 13 1 0 0 14
Hereditary cancer-predisposing syndrome 0 103 0 3 9 0 0 12
Multiple endocrine neoplasia, type 1 0 0 0 12 0 0 0 12
Multiple endocrine neoplasia, type 4 0 0 0 12 0 0 0 12
not provided 0 63 5 3 1 0 0 9
Multiple endocrine neoplasia, type 2 518 25 0 4 0 0 4 8
not specified 0 55 0 2 3 0 3 8
Hirschsprung disease 0 7 0 3 1 0 0 4
Neoplasm 0 0 0 2 0 0 0 2
Central hypoventilation syndrome, congenital, with hirschsprung disease 0 0 0 0 0 0 1 1
Hirschsprung disease 1 0 0 0 0 0 1 0 1
Neoplasm of the thyroid gland 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 50
Download table as spreadsheet
HGVS dbSNP
NM_020975.6(RET):c.1188G>A (p.Ser396=) rs758510657
NM_020975.6(RET):c.1250G>A (p.Arg417His) rs201030628
NM_020975.6(RET):c.1522+35C>T rs377130948
NM_020975.6(RET):c.1531G>A (p.Glu511Lys) rs201553718
NM_020975.6(RET):c.1591T>C (p.Cys531Arg) rs377767390
NM_020975.6(RET):c.1642G>A (p.Gly548Ser) rs374461212
NM_020975.6(RET):c.170G>A (p.Arg57Gln) rs779915615
NM_020975.6(RET):c.1771G>A (p.Val591Ile) rs776013456
NM_020975.6(RET):c.1825T>C (p.Cys609Arg) rs77558292
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) rs77939446
NM_020975.6(RET):c.1826G>T (p.Cys609Phe) rs77939446
NM_020975.6(RET):c.1831T>C (p.Cys611Arg) rs377767391
NM_020975.6(RET):c.1852T>C (p.Cys618Arg) rs76262710
NM_020975.6(RET):c.1853G>A (p.Cys618Tyr) rs79781594
NM_020975.6(RET):c.1858T>C (p.Cys620Arg) rs77316810
NM_020975.6(RET):c.1859G>A (p.Cys620Tyr) rs77503355
NM_020975.6(RET):c.1888T>C (p.Cys630Arg) rs377767404
NM_020975.6(RET):c.1890_1892CGA[1] (p.Asp631del) rs377767435
NM_020975.6(RET):c.1900T>C (p.Cys634Arg) rs75076352
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr) rs75996173
NM_020975.6(RET):c.1902C>G (p.Cys634Trp) rs77709286
NM_020975.6(RET):c.1947G>A (p.Ser649=) rs377767412
NM_020975.6(RET):c.1996A>G (p.Lys666Glu) rs143795581
NM_020975.6(RET):c.1998G>C (p.Lys666Asn) rs146646971
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) rs146646971
NM_020975.6(RET):c.2081G>A (p.Arg694Gln) rs141185224
NM_020975.6(RET):c.2284+54C>A rs566375223
NM_020975.6(RET):c.2304G>C (p.Glu768Asp) rs78014899
NM_020975.6(RET):c.2304G>T (p.Glu768Asp) rs78014899
NM_020975.6(RET):c.2342A>G (p.Gln781Arg) rs377767416
NM_020975.6(RET):c.2370G>C (p.Leu790Phe) rs75030001
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334
NM_020975.6(RET):c.2410G>C (p.Val804Leu) rs79658334
NM_020975.6(RET):c.2543T>A (p.Met848Lys) rs201101792
NM_020975.6(RET):c.2547C>T (p.Gly849=) rs770674650
NM_020975.6(RET):c.2611G>A (p.Val871Ile) rs145170911
NM_020975.6(RET):c.2647G>A (p.Ala883Thr) rs377767428
NM_020975.6(RET):c.2671T>G (p.Ser891Ala) rs75234356
NM_020975.6(RET):c.2711C>T (p.Ser904Phe) rs267607011
NM_020975.6(RET):c.2752A>G (p.Met918Val) rs377767442
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_020975.6(RET):c.2982A>C (p.Lys994Asn) rs199718928
NM_020975.6(RET):c.3057G>A (p.Ala1019=) rs369579749
NM_020975.6(RET):c.3116C>T (p.Pro1039Leu) rs79853121
NM_020975.6(RET):c.44_46TGC[4] (p.Leu19del) rs768132465
NM_020975.6(RET):c.509C>T (p.Thr170Ile) rs200547906
NM_020975.6(RET):c.785T>C (p.Val262Ala) rs139790943
NM_020975.6(RET):c.867+4del rs398124368
NM_020975.6(RET):c.938G>A (p.Arg313Gln) rs77702891
NM_020975.6(RET):c.973G>A (p.Ala325Thr) rs779719517

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.