ClinVar Miner

Variants with conflicting interpretations studied for Hereditary insensitivity to pain with anhidrosis

Coded as:
Minimum review status of the submission for Hereditary insensitivity to pain with anhidrosis: Y axis collection method of the submission for Hereditary insensitivity to pain with anhidrosis:
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
137 23 3 18 17 0 8 43

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
Hereditary insensitivity to pain with anhidrosis pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 3 2 4 0 0
likely pathogenic 2 0 2 0 0
uncertain significance 0 1 0 8 5
likely benign 2 0 7 0 13
benign 2 0 4 13 0

Condition to condition summary #

Total conditions: 6
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
not specified 0 7 0 13 10 0 0 22
Hereditary insensitivity to pain with anhidrosis 178 5 1 12 6 0 1 20
not provided 0 11 1 8 4 0 0 13
Familial medullary thyroid carcinoma 0 5 0 0 5 0 2 7
Charcot-Marie-Tooth disease 0 1 0 0 0 0 5 5
Inborn genetic diseases 0 0 1 0 0 0 0 1

All variants with conflicting interpretations #

Total variants: 43
Download table as spreadsheet
HGVS dbSNP
NM_001007792.1(NTRK1):c.1698-4del rs1799770
NM_002529.3(NTRK1):c.1076A>G (p.Tyr359Cys) rs121964869
NM_002529.3(NTRK1):c.1080G>A (p.Thr360=) rs2274498
NM_002529.3(NTRK1):c.10G>A (p.Gly4Ser) rs556840308
NM_002529.3(NTRK1):c.1187C>T (p.Ser396Leu) rs199646180
NM_002529.3(NTRK1):c.1236C>T (p.Asp412=) rs147438950
NM_002529.3(NTRK1):c.1252-15C>G rs186649954
NM_002529.3(NTRK1):c.1331G>A (p.Arg444Gln) rs56320207
NM_002529.3(NTRK1):c.1522C>A (p.Arg508=) rs200575096
NM_002529.3(NTRK1):c.157G>C (p.Asp53His) rs200815412
NM_002529.3(NTRK1):c.1660del (p.Arg554fs) rs80356675
NM_002529.3(NTRK1):c.16C>T (p.Arg6Trp) rs201472270
NM_002529.3(NTRK1):c.1728C>T (p.Phe576=) rs6335
NM_002529.3(NTRK1):c.1810C>T (p.His604Tyr) rs6336
NM_002529.3(NTRK1):c.1838G>T (p.Gly613Val) rs6339
NM_002529.3(NTRK1):c.1860C>T (p.Gly620=) rs6338
NM_002529.3(NTRK1):c.1860_1861insT (p.Pro621fs) rs80356676
NM_002529.3(NTRK1):c.1887C>T (p.Ala629=) rs6337
NM_002529.3(NTRK1):c.1908G>A (p.Ala636=) rs17838192
NM_002529.3(NTRK1):c.2046+3A>C
NM_002529.3(NTRK1):c.2047-6T>C rs762866535
NM_002529.3(NTRK1):c.2052A>G (p.Gly684=) rs34271945
NM_002529.3(NTRK1):c.2084C>T (p.Pro695Leu) rs121964868
NM_002529.3(NTRK1):c.212+10C>T rs183517027
NM_002529.3(NTRK1):c.2169C>T (p.Tyr723=) rs140852621
NM_002529.3(NTRK1):c.2202G>A (p.Thr734=) rs55668752
NM_002529.3(NTRK1):c.2272G>A (p.Ala758Thr) rs62640939
NM_002529.3(NTRK1):c.2281C>T (p.Arg761Trp) rs759637817
NM_002529.3(NTRK1):c.2303C>T (p.Pro768Leu)
NM_002529.3(NTRK1):c.2339G>A (p.Arg780Gln) rs35669708
NM_002529.3(NTRK1):c.288-8C>T rs80026148
NM_002529.3(NTRK1):c.354_359+3del
NM_002529.3(NTRK1):c.428+12C>A rs41267425
NM_002529.3(NTRK1):c.505G>A (p.Gly169Arg) rs367836863
NM_002529.3(NTRK1):c.53G>A (p.Gly18Glu) rs1007211
NM_002529.3(NTRK1):c.543del (p.Leu183fs)
NM_002529.3(NTRK1):c.570C>G (p.Ser190Arg) rs138608619
NM_002529.3(NTRK1):c.612G>A (p.Ser204=) rs114320051
NM_002529.3(NTRK1):c.638T>C (p.Leu213Pro) rs747711259
NM_002529.3(NTRK1):c.710C>T (p.Thr237Met) rs55909005
NM_002529.3(NTRK1):c.851-33T>A rs80356674
NM_002529.3(NTRK1):c.865C>A (p.Gln289Lys) rs137979116
NM_002529.3(NTRK1):c.940C>T (p.Arg314Cys) rs137994522

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