ClinVar Miner

Variants with conflicting interpretations studied for Cardio-facio-cutaneous syndrome

Coded as:
Minimum review status of the submission for Cardio-facio-cutaneous syndrome: Y axis collection method of the submission for Cardio-facio-cutaneous syndrome:
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
6 124 1 43 10 0 4 56

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
Cardio-facio-cutaneous syndrome pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 1 13 0 0 0
likely pathogenic 13 0 4 0 0
uncertain significance 0 0 0 8 6
likely benign 0 0 1 0 20

Condition to condition summary #

Total conditions: 32
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 3 0 19 8 0 1 28
Rasopathy 0 15 0 18 5 0 3 26
not provided 0 28 0 18 3 0 0 21
Cutaneous melanoma 0 3 0 4 0 0 0 4
Lung adenocarcinoma 0 0 0 4 0 0 0 4
Malignant melanoma of skin 0 0 0 4 0 0 0 4
Cardio-facio-cutaneous syndrome 172 11 0 3 0 0 0 3
Inborn genetic diseases 0 4 0 3 0 0 0 3
Multiple myeloma 0 0 0 3 0 0 0 3
Transitional cell carcinoma of the bladder 0 0 0 3 0 0 0 3
Cardiofaciocutaneous syndrome 1 0 8 0 2 0 0 0 2
Glioblastoma 0 0 0 2 0 0 0 2
Noonan syndrome with multiple lentigines 0 25 1 1 0 0 0 2
Squamous cell carcinoma of the head and neck 0 0 0 2 0 0 0 2
Adenocarcinoma of prostate 0 0 0 1 0 0 0 1
Adenocarcinoma of stomach 0 0 0 1 0 0 0 1
Brainstem glioma 0 0 0 1 0 0 0 1
Cardiofaciocutaneous syndrome 1; Lung cancer; Noonan syndrome 1; LEOPARD syndrome 3; Noonan syndrome 7 0 2 0 1 0 0 0 1
Cardiofaciocutaneous syndrome 3 0 3 0 1 0 0 0 1
Cardiofaciocutaneous syndrome 4 0 3 0 1 0 0 0 1
LEOPARD syndrome 3 0 1 0 1 0 0 0 1
Malignant neoplasm of body of uterus 0 0 0 1 0 0 0 1
Neoplasm 0 1 0 1 0 0 0 1
Neoplasm of brain 0 0 0 1 0 0 0 1
Neoplasm of the colon 0 0 0 1 0 0 0 1
Neoplasm of the large intestine 0 2 0 1 0 0 0 1
PHACE syndrome; Tethered cord; Genetic syndrome with a Dandy-Walker malformation as major feature 0 0 0 1 0 0 0 1
Pancreatic adenocarcinoma 0 0 0 1 0 0 0 1
Papillary renal cell carcinoma, sporadic 0 0 0 1 0 0 0 1
Pulmonic stenosis; Webbed neck; Downslanted palpebral fissures; Premature birth; Wide intermamillary distance; High forehead; Low-set, posteriorly rotated ears; Ventricular hypertrophy; Neonatal respiratory distress; Ventricular septal defect 0 0 0 1 0 0 0 1
Squamous cell carcinoma of the skin 0 0 0 1 0 0 0 1
Squamous cell lung carcinoma 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 56
Download table as spreadsheet
HGVS dbSNP
NM_002755.3(MAP2K1):c.-2A>G rs77796976
NM_002755.3(MAP2K1):c.-31dupC rs730880340
NM_002755.3(MAP2K1):c.1023-8C>T rs41306345
NM_002755.3(MAP2K1):c.1068+12_1068+15delTATT rs397516788
NM_002755.3(MAP2K1):c.1068+9A>G rs368800650
NM_002755.3(MAP2K1):c.1137C>T (p.Ile379=) rs150841154
NM_002755.3(MAP2K1):c.169A>C (p.Lys57Gln) rs397516790
NM_002755.3(MAP2K1):c.171G>T (p.Lys57Asn) rs869025608
NM_002755.3(MAP2K1):c.199G>A (p.Asp67Asn) rs727504317
NM_002755.3(MAP2K1):c.275T>G (p.Leu92Arg) rs397516791
NM_002755.3(MAP2K1):c.371C>T (p.Pro124Leu) rs397516792
NM_002755.3(MAP2K1):c.383G>T (p.Gly128Val) rs121908596
NM_002755.3(MAP2K1):c.388T>C (p.Tyr130His) rs397516793
NM_002755.3(MAP2K1):c.694-8_694-7dup rs113913469
NM_002755.3(MAP2K1):c.927A>T (p.Ala309=) rs146869577
NM_004333.4(BRAF):c.*7T>C rs727502903
NM_004333.4(BRAF):c.-19C>T rs71645935
NM_004333.4(BRAF):c.1743T>A (p.Asn581Lys) rs397516895
NM_004333.4(BRAF):c.2128-5delT rs373442098
NM_004333.4(BRAF):c.2128-5dupT rs373442098
NM_004333.4(BRAF):c.721A>C (p.Thr241Pro) rs387906661
NM_004333.4(BRAF):c.735A>C (p.Leu245Phe) rs397507466
NM_004333.4(BRAF):c.735A>T (p.Leu245Phe) rs397507466
NM_004333.4(BRAF):c.981-14C>A rs200002171
NM_004333.5(BRAF):c.-5A>G rs71645936
NM_004333.5(BRAF):c.1024A>G (p.Ile342Val) rs201481342
NM_004333.5(BRAF):c.1068A>G (p.Gln356=) rs143335467
NM_004333.5(BRAF):c.1227A>G (p.Ser409=) rs145035762
NM_004333.5(BRAF):c.1332G>A (p.Arg444=) rs56101602
NM_004333.5(BRAF):c.1383A>G (p.Gln461=) rs56216404
NM_004333.5(BRAF):c.1406G>A (p.Gly469Glu) rs121913355
NM_004333.5(BRAF):c.1454T>C (p.Leu485Ser) rs397507475
NM_004333.5(BRAF):c.1460T>G (p.Val487Gly) rs397516893
NM_004333.5(BRAF):c.1502A>G (p.Glu501Gly) rs180177039
NM_004333.5(BRAF):c.1502A>T (p.Glu501Val) rs180177039
NM_004333.5(BRAF):c.1595G>A (p.Cys532Tyr) rs397507479
NM_004333.5(BRAF):c.1600G>C (p.Gly534Arg) rs180177041
NM_004333.5(BRAF):c.1694+14G>A rs184144181
NM_004333.5(BRAF):c.1785T>G (p.Phe595Leu) rs121913341
NM_004333.5(BRAF):c.1787G>T (p.Gly596Val) rs397507483
NM_004333.5(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_004333.5(BRAF):c.2235A>G (p.Leu745=) rs56046546
NM_004333.5(BRAF):c.36G>A (p.Ala12=) rs397507454
NM_004333.5(BRAF):c.375T>G (p.Ser125=) rs201507202
NM_004333.5(BRAF):c.708C>T (p.Asn236=) rs138333692
NM_004333.5(BRAF):c.785A>C (p.Gln262Pro) rs397516904
NM_004333.5(BRAF):c.78G>T (p.Glu26Asp) rs371877084
NM_004985.4(KRAS):c.-160A>G rs727503111
NM_004985.4(KRAS):c.198A>G (p.Ala66=) rs200229810
NM_004985.4(KRAS):c.264A>G (p.Lys88=) rs370920665
NM_004985.4(KRAS):c.451-9G>A rs12313763
NM_004985.4(KRAS):c.519T>C (p.Asp173=) rs1137282
NM_030662.3(MAP2K2):c.169T>G (p.Phe57Val) rs121434498
NM_030662.3(MAP2K2):c.400T>C (p.Tyr134His) rs121434499
NM_030662.3(MAP2K2):c.401A>G (p.Tyr134Cys) rs727504370
NM_030662.3(MAP2K2):c.619G>A (p.Glu207Lys) rs727504382

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.