ClinVar Miner

Variants with conflicting interpretations studied for Carney complex, type 1

Coded as:
Minimum review status of the submission for Carney complex, type 1: Y axis collection method of the submission for Carney complex, type 1:
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
129 14 7 9 6 1 2 25

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
Carney complex, type 1 pathogenic likely pathogenic uncertain significance likely benign benign other
pathogenic 7 0 1 0 0 0
uncertain significance 1 1 0 2 0 1
likely benign 0 0 4 0 3 0
benign 0 0 0 6 0 0

Condition to condition summary #

Total conditions: 7
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
Carney complex, type 1 161 0 6 0 0 0 1 7
not provided 0 7 3 2 1 0 1 7
Carney complex 0 2 0 3 2 0 1 6
Acrodysostosis 0 2 0 3 2 0 0 5
Hereditary cancer-predisposing syndrome 0 12 0 4 1 0 0 5
not specified 0 4 0 3 2 0 0 5
Medulloblastoma 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 25
Download table as spreadsheet
HGVS dbSNP
NM_002734.4(PRKAR1A):c.1029C>T (p.Gly343=) rs1803241
NM_002734.4(PRKAR1A):c.103A>G (p.Ile35Val) rs377513504
NM_002734.4(PRKAR1A):c.156A>G (p.Glu52=) rs141432364
NM_002734.4(PRKAR1A):c.1A>G (p.Met1Val) rs281864779
NM_002734.4(PRKAR1A):c.204G>A (p.Leu68=) rs74863634
NM_002734.4(PRKAR1A):c.220C>T (p.Arg74Cys) rs137853303
NM_002734.4(PRKAR1A):c.221G>A (p.Arg74His) rs200069356
NM_002734.4(PRKAR1A):c.286C>T (p.Arg96Ter) rs281864783
NM_002734.4(PRKAR1A):c.309G>A (p.Glu103=) rs746113372
NM_002734.4(PRKAR1A):c.329C>T (p.Ala110Val) rs1194755479
NM_002734.4(PRKAR1A):c.381T>C (p.Ala127=) rs372669687
NM_002734.4(PRKAR1A):c.477C>T (p.Ile159=) rs372389205
NM_002734.4(PRKAR1A):c.489T>C (p.Thr163=) rs143672551
NM_002734.4(PRKAR1A):c.489_490TG[1] (p.Val164fs) rs281864790
NM_002734.4(PRKAR1A):c.545C>T (p.Thr182Met) rs199801675
NM_002734.4(PRKAR1A):c.546G>A (p.Thr182=) rs117639566
NM_002734.4(PRKAR1A):c.550-6C>T rs1555814031
NM_002734.4(PRKAR1A):c.550-8C>T rs375936679
NM_002734.4(PRKAR1A):c.552C>G (p.Val184=) rs751501857
NM_002734.4(PRKAR1A):c.678C>T (p.Ile226=) rs200592054
NM_002734.4(PRKAR1A):c.682C>T (p.Arg228Ter) rs281864784
NM_002734.4(PRKAR1A):c.708+1G>T rs281864798
NM_002734.4(PRKAR1A):c.786_787delinsCT (p.Trp262_Glu263delinsCysTer) rs281864785
NM_002734.4(PRKAR1A):c.87G>A (p.Ala29=) rs3730349
NM_002734.4(PRKAR1A):c.891+3A>G rs281864799

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