ClinVar Miner

Variants with conflicting interpretations studied for Medulloblastoma

Coded as:
Minimum review status of the submission for Medulloblastoma: Y axis collection method of the submission for Medulloblastoma:
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
61 40 2 39 9 7 9 59

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
Medulloblastoma pathogenic likely pathogenic uncertain significance likely benign benign risk factor other
pathogenic 0 2 0 0 0 2 1
likely pathogenic 37 2 9 0 0 0 4
uncertain significance 0 0 0 7 5 0 0
likely benign 0 0 1 0 1 0 0
other 2 3 1 0 0 0 0

Condition to condition summary #

Total conditions: 64
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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
Hereditary cancer-predisposing syndrome 0 11 0 6 4 0 5 15
not provided 0 2 2 5 1 0 3 11
Li-Fraumeni syndrome 0 3 0 5 0 0 4 9
Neoplasm of the large intestine 0 41 0 7 0 1 0 8
not specified 0 3 0 2 6 0 0 8
Neoplasm of the breast 0 31 0 7 0 0 0 7
Pilomatrixoma 0 1 0 7 0 2 0 7
Acute myeloid leukemia 0 15 0 5 0 0 0 5
Cutaneous melanoma 0 4 0 5 0 0 0 5
Gorlin syndrome; Medulloblastoma 0 1 0 0 5 0 0 5
Hepatocellular carcinoma 0 47 0 2 0 3 0 5
Medulloblastoma 155 0 0 1 1 3 0 5
Ovarian Neoplasms 0 14 0 3 0 2 0 5
Adenocarcinoma of stomach 0 62 0 1 0 3 0 4
Carcinoma of colon 0 1 0 4 0 0 0 4
Li-Fraumeni syndrome 1 0 0 0 4 0 0 0 4
Malignant melanoma of skin 0 45 0 1 0 3 0 4
Malignant neoplasm of body of uterus 0 54 0 1 0 3 0 4
Neoplasm of ovary 0 0 0 4 0 0 0 4
Adenocarcinoma of prostate 0 45 0 1 0 2 0 3
Breast adenocarcinoma 0 0 0 3 0 0 0 3
Lung adenocarcinoma 0 47 0 1 0 2 0 3
Non-small cell lung cancer 0 0 0 3 0 0 0 3
Transitional cell carcinoma of the bladder 0 55 0 1 0 2 0 3
Adrenocortical carcinoma, hereditary; Familial cancer of breast; Glioma susceptibility 1; Osteosarcoma; Li-Fraumeni syndrome 1; Nasopharyngeal carcinoma; Carcinoma of pancreas; Choroid plexus papilloma; Carcinoma of colon; Basal cell carcinoma, susceptibility to, 7; Hepatocellular carcinoma 0 0 0 2 0 0 0 2
Carcinoma of esophagus 0 36 0 1 0 1 0 2
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 0 0 0 2 0 0 0 2
Encephalocraniocutaneous lipomatosis 0 0 0 2 0 0 0 2
Glioma susceptibility 3 0 0 0 0 0 2 0 2
Hepatoblastoma 0 0 0 2 0 1 0 2
Ovarian epithelial cancer 0 0 0 2 0 0 0 2
PIK3CA related overgrowth spectrum 0 1 0 2 0 0 0 2
Pancreatic adenocarcinoma 0 30 0 1 0 1 0 2
Rosette-forming glioneuronal tumor 0 0 0 2 0 0 0 2
ADRENAL CORTICAL NEOPLASM 0 0 0 0 0 1 0 1
Adrenocortical carcinoma 0 11 0 0 0 1 0 1
Anaplastic thyroid carcinoma 0 0 0 1 0 0 0 1
Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth 0 0 0 1 0 0 0 1
Carney complex, type 1 0 0 0 0 0 1 0 1
Congenital giant melanocytic nevus 0 0 0 1 0 0 0 1
Cowden syndrome 0 0 0 1 0 0 0 1
Craniopharyngioma 0 3 0 0 0 1 0 1
Familial cancer of breast; Megalencephaly cutis marmorata telangiectatica congenita; Lung cancer; Congenital macrodactylia; Keratosis, seborrheic; Epidermal nevus; Neoplasm of ovary; Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth; Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi; Carcinoma of colon; Neoplasm of stomach; Cowden syndrome 5; Hepatocellular carcinoma 0 0 0 1 0 0 0 1
Glioblastoma multiforme, somatic 0 0 0 1 0 0 0 1
Gorlin syndrome 0 1 0 1 0 0 0 1
Juvenile myelomonocytic leukemia 0 0 0 1 0 0 0 1
Keratosis, seborrheic 0 0 0 1 0 0 0 1
MACRODACTYLY, SOMATIC 0 0 0 1 0 0 0 1
Macrodactyly of toe; Stroke 0 0 0 1 0 0 0 1
Malignant Colorectal Neoplasm 0 0 0 1 0 0 0 1
Malignant tumor of prostate 0 1 0 0 0 0 1 1
Megalencephaly cutis marmorata telangiectatica congenita 0 0 0 1 0 0 0 1
Neoplasm of brain 0 26 0 0 0 1 0 1
Neoplasm of stomach 0 2 0 1 0 0 0 1
Neoplasm of the parathyroid gland 0 1 0 0 0 1 0 1
Noonan syndrome 6 0 0 0 1 0 0 0 1
Pectus excavatum; Acute myeloid leukemia; Short stature; Cognitive impairment; Webbed neck; Pancytopenia; Abnormality of the tongue 0 0 0 1 0 0 0 1
RAS-associated autoimmune leukoproliferative disorder 0 0 0 1 0 0 0 1
Rasopathy 0 0 0 0 1 0 0 1
Retinoblastoma 0 0 0 0 1 0 0 1
Sarcoma 0 0 0 1 0 0 0 1
Squamous cell carcinoma of the head and neck 0 45 0 0 0 1 0 1
Uterine cervical neoplasms 0 32 0 0 0 1 0 1
Werner syndrome 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 59
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HGVS dbSNP
NM_000059.3(BRCA2):c.5645C>G (p.Ser1882Ter) rs80358785
NM_000059.3(BRCA2):c.658_659delGT (p.Val220Ilefs) rs80359604
NM_000321.2(RB1):c.2356C>T (p.Pro786Ser) rs754507551
NM_000546.5(TP53):c.523C>G (p.Arg175Gly) rs138729528
NM_000546.5(TP53):c.523C>T (p.Arg175Cys) rs138729528
NM_000546.5(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.5(TP53):c.743G>A (p.Arg248Gln) rs11540652
NM_000546.5(TP53):c.745A>G (p.Arg249Gly) rs587782082
NM_000546.5(TP53):c.745A>T (p.Arg249Trp) rs587782082
NM_000546.5(TP53):c.746G>A (p.Arg249Lys) rs587782329
NM_000546.5(TP53):c.746G>T (p.Arg249Met) rs587782329
NM_000546.5(TP53):c.814G>A (p.Val272Met) rs121912657
NM_000546.5(TP53):c.814G>T (p.Val272Leu) rs121912657
NM_000546.5(TP53):c.815T>G (p.Val272Gly) rs876660333
NM_000546.5(TP53):c.817C>A (p.Arg273Ser) rs121913343
NM_000546.5(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.5(TP53):c.818G>C (p.Arg273Pro) rs28934576
NM_000546.5(TP53):c.818G>T (p.Arg273Leu) rs28934576
NM_000553.5(WRN):c.1105C>T (p.Arg369Ter) rs17847577
NM_001166292.1(PTCH2):c.1172_1173delCT (p.Ser391Terfs) rs56126236
NM_001282386.1(IDH1):c.395G>A (p.Arg132His) rs121913500
NM_001282387.1(IDH1):c.394C>A (p.Arg132Ser) rs121913499
NM_001282387.1(IDH1):c.394C>G (p.Arg132Gly) rs121913499
NM_001282387.1(IDH1):c.394C>T (p.Arg132Cys) rs121913499
NM_001904.3(CTNNB1):c.101G>A (p.Gly34Glu) rs28931589
NM_001904.3(CTNNB1):c.101G>T (p.Gly34Val) rs28931589
NM_001904.3(CTNNB1):c.110C>A (p.Ser37Tyr) rs121913403
NM_001904.3(CTNNB1):c.110C>G (p.Ser37Cys) rs121913403
NM_001904.3(CTNNB1):c.110C>T (p.Ser37Phe) rs121913403
NM_001904.3(CTNNB1):c.94G>T (p.Asp32Tyr) rs28931588
NM_001904.3(CTNNB1):c.95A>G (p.Asp32Gly) rs121913396
NM_001904.3(CTNNB1):c.98C>A (p.Ser33Tyr) rs121913400
NM_001904.3(CTNNB1):c.98C>G (p.Ser33Cys) rs121913400
NM_001904.3(CTNNB1):c.98C>T (p.Ser33Phe) rs121913400
NM_002524.3(NRAS):c.38G>A (p.Gly13Asp) rs121434596
NM_002524.4(NRAS):c.37G>C (p.Gly13Arg) rs121434595
NM_002524.4(NRAS):c.38G>T (p.Gly13Val) rs121434596
NM_002734.4(PRKAR1A):c.329C>T (p.Ala110Val) rs1194755479
NM_004380.2(CREBBP):c.4336C>T (p.Arg1446Cys) rs398124146
NM_005633.3(SOS1):c.2371C>A (p.Leu791Ile) rs142004123
NM_005896.3(IDH1):c.395G>T (p.Arg132Leu) rs121913500
NM_006218.3(PIK3CA):c.1636C>G (p.Gln546Glu) rs121913286
NM_006218.3(PIK3CA):c.1637A>T (p.Gln546Leu) rs397517201
NM_006218.3(PIK3CA):c.3139C>T (p.His1047Tyr) rs121913281
NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys) rs121913286
NM_006218.4(PIK3CA):c.1637A>C (p.Gln546Pro) rs397517201
NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg) rs397517201
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) rs121913279
NM_016169.3(SUFU):c.-33C>T rs201649559
NM_016169.3(SUFU):c.1291T>C (p.Leu431=) rs141950577
NM_016169.3(SUFU):c.1299T>C (p.Ile433=) rs17114803
NM_016169.3(SUFU):c.12G>A (p.Leu4=) rs189234140
NM_016169.3(SUFU):c.210T>C (p.Tyr70=) rs35166585
NM_016169.3(SUFU):c.528C>T (p.His176=) rs150569584
NM_016169.3(SUFU):c.839G>A (p.Arg280Gln) rs145704867
NM_016169.3(SUFU):c.910+14C>T rs202247757
NM_023110.2(FGFR1):c.1638C>A (p.Asn546Lys) rs779707422
NM_023110.2(FGFR1):c.1966A>G (p.Lys656Glu) rs869320694

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