ClinVar Miner

Variants with conflicting interpretations studied for Ataxia-telangiectasia-like disorder 1

Coded as:
Minimum review status of the submission for Ataxia-telangiectasia-like disorder 1: Y axis collection method of the submission for Ataxia-telangiectasia-like disorder 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
100 96 0 25 14 1 5 36

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
Ataxia-telangiectasia-like disorder 1 pathogenic likely pathogenic uncertain significance likely benign benign association
pathogenic 0 3 2 0 0 0
likely pathogenic 4 0 3 1 1 1
uncertain significance 1 1 0 10 4 0
likely benign 0 0 9 0 14 0
benign 0 0 3 13 0 0

Condition to condition summary #

Total conditions: 203
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
Hereditary cancer-predisposing syndrome 0 95 0 17 9 0 3 27
Ataxia-telangiectasia-like disorder 1 203 15 0 9 6 0 1 14
not specified 0 10 0 11 5 0 1 13
not provided 0 19 0 7 5 0 3 12
Ataxia-telangiectasia-like disorder 0 12 0 2 0 0 0 2
16q24.3 microdeletion syndrome 0 0 0 1 0 0 0 1
1q21.1 recurrent microdeletion 0 0 0 1 0 0 0 1
3-methylcrotonyl CoA carboxylase 2 deficiency 0 0 0 1 0 0 0 1
Abnormal aortic valve physiology 0 0 0 1 0 0 0 1
Abnormal mitral valve physiology 0 0 0 1 0 0 0 1
Abnormality of esophagus morphology 0 0 0 1 0 0 0 1
Acrodysostosis 2, with or without hormone resistance 0 0 0 0 0 0 1 1
Aminoaciduria 0 0 0 1 0 0 0 1
Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 0 0 0 1 0 0 0 1
Aortic aneurysm, familial thoracic 4 0 0 0 0 0 0 1 1
Arrhythmogenic right ventricular dysplasia, familial, 13 0 0 0 0 0 0 1 1
Autism spectrum disorder 0 0 0 1 0 1 1 1
Autism spectrum disorder; Epilepsy 0 0 0 1 0 0 1 1
Autistic disorder of childhood onset 0 0 0 1 0 0 1 1
Autistic disorder of childhood onset; Schizophrenia 0 0 0 1 0 0 0 1
Autosomal recessive congenital ichthyosis 3 0 0 0 1 0 0 0 1
Bardet-Biedl syndrome 0 0 0 1 0 0 0 1
Becker muscular dystrophy 0 0 0 1 0 0 0 1
Becker muscular dystrophy; Duchenne muscular dystrophy 0 0 0 1 0 0 0 1
Beckwith-Wiedemann syndrome 0 0 0 1 0 0 0 1
Behavioral abnormality; Low-set ears; Prominent nasal bridge; Underdeveloped nasal alae; Intellectual disability, mild; Postnatal microcephaly 0 0 0 0 0 0 1 1
Behavioral abnormality; Moderate global developmental delay 0 0 0 0 0 0 1 1
Bethlem myopathy 1 0 0 0 0 0 0 1 1
Biotin-thiamine-responsive basal ganglia disease 0 0 0 0 0 0 1 1
Biotinidase deficiency 0 0 0 1 0 0 1 1
Birk-Barel Intellectual Disability Dysmorphism Syndrome 0 0 0 0 0 0 1 1
Blepharophimosis, ptosis, and epicanthus inversus 0 0 0 1 0 0 0 1
Blepharophimosis; Absent speech; Thick lower lip vermilion; Thin upper lip vermilion; Long eyelashes; Intellectual disability, moderate 0 0 0 1 0 0 0 1
Breast-ovarian cancer, familial 1 0 0 0 1 0 0 1 1
Breast-ovarian cancer, familial 2 0 0 0 1 0 0 0 1
Brown-Vialetto-Van Laere syndrome 1 0 0 0 0 0 0 1 1
CHARGE association 0 0 0 1 0 0 1 1
Capillary malformation-arteriovenous malformation 0 0 0 1 0 0 0 1
Cerebral cavernous malformation 0 0 0 1 0 0 0 1
Ceroid lipofuscinosis neuronal 1 0 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease 0 0 0 0 0 0 1 1
Charcot-Marie-Tooth disease type 2K 0 0 0 0 0 0 1 1
Chorioretinal atrophy, progressive bifocal 0 0 0 1 0 0 0 1
Chorioretinal atrophy, progressive bifocal; North Carolina macular dystrophy 0 0 0 1 0 0 0 1
Chromosome 15q11-q13 duplication syndrome 0 0 0 1 0 0 0 1
Chromosome 17q12 duplication syndrome 0 0 0 1 0 0 0 1
Chromosome 9q deletion syndrome 0 0 0 1 0 0 0 1
Ciliary dyskinesia, primary, 28 0 0 0 1 0 0 0 1
Citrullinemia type I 0 0 0 1 0 0 0 1
Cohen syndrome 0 0 0 1 0 0 0 1
Collagen VI-related myopathy 0 0 0 0 0 0 1 1
Combined oxidative phosphorylation deficiency 14 0 0 0 0 0 0 1 1
Combined oxidative phosphorylation deficiency 31 0 0 0 1 0 0 0 1
Cone monochromatism 0 0 0 1 0 0 0 1
Congenital contractural arachnodactyly 0 0 0 0 0 0 1 1
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7; Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7 0 0 0 1 0 0 0 1
Cornelia de Lange syndrome 1 0 0 0 1 0 0 0 1
Cornelia de Lange syndrome 5 0 0 0 1 0 0 0 1
Cystic fibrosis 0 0 0 1 0 0 0 1
Deafness, autosomal recessive 16 0 0 0 1 0 0 0 1
Deafness, autosomal recessive 1A 0 0 0 1 0 0 0 1
Dent disease 1 0 0 0 1 0 0 0 1
Developmental Split Brain Syndrome 0 0 0 1 0 0 0 1
Dihydropteridine reductase deficiency 0 0 0 1 0 0 0 1
Dilated Cardiomyopathy, Dominant 0 0 0 0 0 0 1 1
Duchenne muscular dystrophy 0 0 0 1 0 0 1 1
Ductal breast carcinoma 0 0 0 0 0 0 1 1
Early infantile epileptic encephalopathy 0 0 0 1 0 0 1 1
Ehlers-Danlos syndrome, classic type 0 0 0 0 0 0 1 1
Epilepsy, progressive myoclonic 3 0 0 0 0 0 0 1 1
Epileptic encephalopathy 0 0 0 1 0 0 0 1
Epileptic encephalopathy, early infantile, 1; Spinocerebellar ataxia, autosomal recessive 12 0 0 0 1 0 0 0 1
Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 0 0 0 1 0 0 0 1
Ethylmalonic encephalopathy 0 0 0 1 0 0 0 1
Failure to thrive in infancy; Attention deficit hyperactivity disorder 0 0 0 0 0 0 1 1
Familial X-linked hypophosphatemic vitamin D refractory rickets 0 0 0 1 0 0 0 1
Familial adenomatous polyposis 1 0 0 0 1 0 0 0 1
Familial cancer of breast 0 0 0 1 0 0 1 1
Familial colorectal cancer 0 0 0 0 0 0 1 1
Familial hypercholesterolemia 0 0 0 1 0 0 1 1
Fanconi anemia 0 0 0 1 0 0 1 1
Fumarase deficiency 0 0 0 1 0 0 0 1
Galactosylceramide beta-galactosidase deficiency 0 0 0 0 0 0 1 1
Global developmental delay 0 0 0 1 0 0 0 1
Global developmental delay; Expressive language delay; Postnatal microcephaly 0 0 0 1 0 0 0 1
Gorlin syndrome 0 0 0 1 0 0 0 1
Griscelli syndrome type 2 0 0 0 1 0 0 0 1
Hematologic neoplasm 0 0 0 1 0 0 0 1
Hereditary Paraganglioma-Pheochromocytoma Syndromes 0 0 0 0 0 0 1 1
Hereditary breast and ovarian cancer syndrome 0 0 0 1 0 0 0 1
Hereditary cutaneous melanoma 0 0 0 1 0 0 0 1
Hereditary nonpolyposis colon cancer 0 0 0 1 0 0 1 1
Hereditary pancreatitis 0 0 0 0 0 0 1 1
Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 0 0 0 0 0 0 1 1
Hereditary sensory and autonomic neuropathy type IIB 0 0 0 0 0 0 1 1
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive 0 0 0 1 0 0 0 1
Hyperparathyroidism 1; Parathyroid carcinoma; Hyperparathyroidism 2 0 0 0 1 0 0 0 1
Hypertrophic cardiomyopathy 0 0 0 0 0 0 1 1
Hypohidrotic X-linked ectodermal dysplasia 0 0 0 1 0 0 0 1
Hypoparathyroidism retardation dysmorphism syndrome 0 0 0 1 0 0 0 1
Hypophosphatemic rickets, X-linked recessive 0 0 0 1 0 0 0 1
Idiopathic fibrosing alveolitis, chronic form; Dyskeratosis congenita, autosomal dominant, 2 0 0 0 0 0 0 1 1
Immunodeficiency 23 0 0 0 1 0 0 0 1
Inclusion body myositis; GNE myopathy 0 0 0 1 0 0 0 1
Infantile neuroaxonal dystrophy 0 0 0 1 0 0 0 1
Intellectual disability, mild 0 0 0 0 0 0 1 1
Intellectual disability, severe 0 0 0 1 0 0 0 1
Intestinal malrotation 0 0 0 1 0 0 1 1
Isolated growth hormone deficiency type 1B 0 0 0 1 0 0 0 1
Jeune thoracic dystrophy 0 0 0 1 0 0 0 1
Joubert syndrome 0 0 0 1 0 0 0 1
Joubert syndrome 20; Meckel syndrome, type 11 0 0 0 0 0 0 1 1
Joubert syndrome; Oral-facial-digital syndrome 0 0 0 1 0 0 0 1
Juvenile neuronal ceroid lipofuscinosis 0 0 0 1 0 0 0 1
Juvenile polyposis syndrome 0 0 0 1 0 0 1 1
Kilquist Syndrome 0 0 0 1 0 0 0 1
Laminin alpha 2-related dystrophy 0 0 0 1 0 0 0 1
Left ventricular noncompaction cardiomyopathy 0 0 0 0 0 0 1 1
Leptin receptor deficiency 0 0 0 1 0 0 0 1
Lethal multiple pterygium syndrome 0 0 0 1 0 0 0 1
Loeys-Dietz syndrome 4 0 0 0 1 0 0 0 1
Long QT syndrome 0 0 0 1 0 0 0 1
Lowe syndrome 0 0 0 1 0 0 0 1
MBD5 associated neurodevelopmental disorder 0 0 0 1 0 0 0 1
MECP2 duplication syndrome 0 0 0 1 0 0 0 1
Marfan syndrome 0 0 0 1 0 0 0 1
Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 0 0 0 1 0 0 0 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 0 0 0 1 0 0 0 1
Melanoma, cutaneous malignant, susceptibility to, 10 0 0 0 0 0 0 1 1
Mental retardation, autosomal recessive 7 0 0 0 1 0 0 0 1
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 0 0 0 0 0 0 1 1
Mitochondrial complex I deficiency 0 0 0 0 0 0 1 1
Mowat-Wilson syndrome 0 0 0 1 0 0 0 1
Multiple congenital anomalies-hypotonia-seizures syndrome 1 0 0 0 1 0 0 0 1
Multiple congenital anomalies/dysmorphic syndrome-intellectual disability 0 0 0 1 0 0 0 1
Multiple exostoses type 2 0 0 0 1 0 0 0 1
Myoclonic dystonia 0 0 0 1 0 0 0 1
Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant 0 0 0 0 0 0 1 1
Myopathy, distal, 1 0 0 0 0 0 0 1 1
Myosclerosis 0 0 0 0 0 0 1 1
Myosin storage myopathy 0 0 0 0 0 0 1 1
Neoplasm of the breast 0 0 0 1 0 0 0 1
Nephronophthisis 0 0 0 0 0 0 1 1
Nephronophthisis 1; Senior-Loken syndrome 3 0 0 0 1 0 0 0 1
Neuroblastoma 3 0 0 0 0 0 0 1 1
Neurodevelopmental disorder 0 0 0 1 0 0 1 1
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 0 0 0 1 0 0 0 1
Neurofibromatosis, type 2 0 0 0 0 0 0 1 1
Neuronopathy, distal hereditary motor, type viia; Myasthenic syndrome, congenital, 20, presynaptic 0 0 0 0 0 0 1 1
Neuropathy, hereditary motor and sensory, Okinawa type; Spastic paraplegia 57, autosomal recessive 0 0 0 0 0 0 1 1
Optic nerve hypoplasia 0 0 0 1 0 0 0 1
Osler hemorrhagic telangiectasia syndrome 0 0 0 1 0 0 0 1
Osteogenesis imperfecta type 10 0 0 0 1 0 0 0 1
Osteogenesis imperfecta type I 0 0 0 1 0 0 0 1
Ovarian Neoplasms 0 0 0 1 0 0 0 1
Ovarian cancer; breast cancer 0 0 0 1 0 0 0 1
PTEN hamartoma tumor syndrome 0 0 0 1 0 0 0 1
Parkinson disease 2 0 0 0 1 0 0 0 1
Pena-Shokeir syndrome type I; Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 0 0 0 1 0 0 0 1
Peripheral neuropathy 0 0 0 0 0 0 1 1
Pitt-Hopkins-like syndrome 2 0 0 0 1 0 0 0 1
Polycystic kidney disease, adult type 0 0 0 1 0 0 0 1
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 0 0 0 1 0 0 0 1
Poretti-Boltshauser syndrome 0 0 0 1 0 0 0 1
Prader-Willi syndrome 0 0 0 1 0 0 0 1
Premature ovarian insufficiency 0 0 0 1 0 0 0 1
Primary ciliary dyskinesia 0 0 0 1 0 0 1 1
Primary hyperoxaluria, type I 0 0 0 0 0 0 1 1
Progressive familial heart block type 1B 0 0 0 0 0 0 1 1
Progressive intrahepatic cholestasis 0 0 0 1 0 0 0 1
Pseudoxanthoma elasticum 0 0 0 1 0 0 0 1
RHD DEL 0 0 0 1 0 0 0 1
Renal cyst; Pancreatic cysts 0 0 0 1 0 0 0 1
RhD negative 0 0 0 1 0 0 0 1
Rigidity and multifocal seizure syndrome, lethal neonatal 0 0 0 1 0 0 0 1
Scapuloperoneal myopathy 0 0 0 0 0 0 1 1
Schizophrenia 0 0 0 1 0 0 0 1
Schizophrenia 17 0 0 0 1 0 0 0 1
See cases 0 0 0 1 0 0 0 1
Seizures; Narrow nasal bridge; Mandibular prognathia; Delayed speech and language development; Intrauterine growth retardation 0 0 0 0 0 0 1 1
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 0 0 0 1 0 0 0 1
Spastic paraplegia 0 0 0 0 0 0 1 1
Spastic paraplegia 11, autosomal recessive 0 0 0 0 0 0 1 1
Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Mental retardation, autosomal dominant 9 0 0 0 0 0 0 1 1
Spastic paraplegia 4, autosomal dominant 0 0 0 1 0 0 0 1
Spherocytosis type 2 0 0 0 1 0 0 0 1
Spinal muscular atrophy, distal, autosomal recessive, 5 0 0 0 0 0 0 1 1
Spinal muscular atrophy, type II; Kugelberg-Welander disease; Werdnig-Hoffmann disease; Spinal muscular atrophy type 4 0 0 0 1 0 0 0 1
Spinocerebellar ataxia 15 0 0 0 1 0 0 0 1
Spinocerebellar ataxia, autosomal recessive 18 0 0 0 1 0 0 0 1
Split-Hand/Foot Malformation 0 0 0 1 0 0 0 1
Spondylocostal dysostosis 5 0 0 0 1 0 0 0 1
T-cell acute lymphoblastic leukemia 0 0 0 1 0 0 0 1
Tetralogy of Fallot 0 0 0 1 0 0 0 1
Thoracic aortic aneurysm and aortic dissection 0 0 0 1 0 0 1 1
Tuberous sclerosis 2 0 0 0 1 0 0 0 1
Tyrosinase-positive oculocutaneous albinism 0 0 0 1 0 0 0 1
Uniparental disomy, paternal, chromosome 14 0 0 0 1 0 0 0 1
Vici syndrome 0 0 0 1 0 0 0 1
Vitamin B2 deficiency 0 0 0 1 0 0 0 1
Wilson disease 0 0 0 1 0 0 0 1
alpha Thalassemia 0 0 0 1 0 0 0 1
not provided; not provided 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 36
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HGVS dbSNP
NM_005591.3(MRE11):c.1002C>G (p.Ser334Arg) rs115244417
NM_005591.3(MRE11):c.1090C>A (p.Arg364=) rs371077728
NM_005591.3(MRE11):c.120C>T (p.Leu40=) rs1805364
NM_005591.3(MRE11):c.121G>A (p.Asp41Asn) rs116679717
NM_005591.3(MRE11):c.1404T>C (p.Asp468=) rs368144567
NM_005591.3(MRE11):c.140C>T (p.Ala47Val) rs730880378
NM_005591.3(MRE11):c.1475C>A (p.Ala492Asp) rs61749249
NM_005591.3(MRE11):c.1480G>A (p.Glu494Lys) rs104895016
NM_005591.3(MRE11):c.1491C>T (p.Ile497=) rs199634245
NM_005591.3(MRE11):c.1714C>T (p.Arg572Ter) rs137852761
NM_005591.3(MRE11):c.1727G>A (p.Arg576Gln) rs139461096
NM_005591.3(MRE11):c.1758G>A (p.Ser586=) rs766372720
NM_005591.3(MRE11):c.1780A>G (p.Arg594Gly) rs576878377
NM_005591.3(MRE11):c.1783+5G>C rs142082313
NM_005591.3(MRE11):c.1783+7A>G rs774520952
NM_005591.3(MRE11):c.1798G>C (p.Glu600Gln) rs145415033
NM_005591.3(MRE11):c.1868-4C>A rs768257868
NM_005591.3(MRE11):c.18A>T (p.Ala6=) rs758314845
NM_005591.3(MRE11):c.1960_1979dup (p.Lys661fs) rs587781442
NM_005591.3(MRE11):c.1994+10G>A rs1805366
NM_005591.3(MRE11):c.2071-53G>T rs13447742
NM_005591.3(MRE11):c.2092A>G (p.Met698Val) rs1805362
NM_005591.3(MRE11):c.21-6_26delATATAGTGATGA rs587780138
NM_005591.3(MRE11):c.315-14dup rs35062043
NM_005591.3(MRE11):c.315-4delT rs35062043
NM_005591.3(MRE11):c.350A>G (p.Asn117Ser) rs137852760
NM_005591.3(MRE11):c.37T>A (p.Phe13Ile) rs149101834
NM_005591.3(MRE11):c.403-6G>A rs535801
NM_005591.3(MRE11):c.426C>T (p.Asp142=) rs3218740
NM_005591.3(MRE11):c.659+1G>A rs759130031
NM_005591.3(MRE11):c.771A>G (p.Glu257=) rs13447632
NM_005591.3(MRE11):c.77T>C (p.Met26Thr) rs372068015
NM_005591.3(MRE11):c.822T>C (p.Leu274=) rs137868143
NM_005591.3(MRE11):c.845+11T>C rs140145979
NM_005591.3(MRE11):c.969A>G (p.Pro323=) rs13447633
Single allele

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