ClinVar Miner

Variants with conflicting interpretations studied for Progressive familial heart block type 1B

Coded as:
Minimum review status of the submission for Progressive familial heart block type 1B: Y axis collection method of the submission for Progressive familial heart block type 1B:
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
76 27 0 17 14 1 6 30

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
Progressive familial heart block type 1B pathogenic likely pathogenic uncertain significance likely benign benign association
pathogenic 0 0 3 3 0 0
likely pathogenic 0 0 1 0 0 0
uncertain significance 3 1 0 6 2 1
likely benign 3 0 5 0 1 0
benign 0 1 5 17 0 0

Condition to condition summary #

Total conditions: 230
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 21 0 5 7 0 2 12
Progressive familial heart block 0 4 0 8 3 0 0 11
Cardiovascular phenotype 0 16 0 7 1 0 1 8
Progressive familial heart block type 1B 127 1 0 1 3 0 3 5
not provided 0 10 0 1 3 0 3 5
Brugada syndrome 0 1 0 0 3 0 2 3
11q partial monosomy syndrome 0 0 0 0 0 0 1 1
16q24.3 microdeletion syndrome 0 0 0 0 0 0 1 1
1p13.3 deletion syndrome 0 0 0 0 0 0 1 1
1q21.1 recurrent microdeletion 0 0 0 0 0 0 1 1
1q24q25 microdeletion syndrome 0 0 0 0 0 0 1 1
3-methylcrotonyl CoA carboxylase 2 deficiency 0 0 0 0 0 0 1 1
Abnormal aortic valve physiology 0 0 0 0 0 0 1 1
Abnormal bleeding 0 0 0 0 0 0 1 1
Abnormal mitral valve physiology 0 0 0 0 0 0 1 1
Abnormality of esophagus morphology 0 0 0 0 0 0 1 1
Abnormality of the eye 0 0 0 0 0 0 1 1
Adams-Oliver syndrome 5 0 0 0 0 0 0 1 1
Aminoaciduria 0 0 0 0 0 0 1 1
Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 0 0 0 0 0 0 1 1
Ataxia-telangiectasia-like disorder 1 0 0 0 0 0 0 1 1
Autism spectrum disorder 0 0 0 0 0 1 1 1
Autism spectrum disorder; Epilepsy 0 0 0 0 0 0 1 1
Autistic behavior; Moderate global developmental delay 0 0 0 0 0 0 1 1
Autistic behavior; Severe global developmental delay 0 0 0 0 0 0 1 1
Autistic disorder of childhood onset 0 0 0 0 0 0 1 1
Autistic disorder of childhood onset; Schizophrenia 0 0 0 0 0 0 1 1
Autosomal recessive congenital ichthyosis 3 0 0 0 0 0 0 1 1
Axenfeld-Rieger syndrome type 3 0 0 0 0 0 0 1 1
Barakat syndrome 0 0 0 0 0 0 1 1
Bardet-Biedl syndrome 0 0 0 0 0 0 1 1
Becker muscular dystrophy 0 0 0 0 0 0 1 1
Becker muscular dystrophy; Duchenne muscular dystrophy 0 0 0 0 0 0 1 1
Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 0 0 0 0 0 0 1 1
Beckwith-Wiedemann syndrome 0 0 0 0 0 0 1 1
Biotinidase deficiency 0 0 0 0 0 0 1 1
Birk-Barel Intellectual Disability Dysmorphism Syndrome 0 0 0 0 1 0 0 1
Blepharophimosis, ptosis, and epicanthus inversus 0 0 0 0 0 0 1 1
Blepharophimosis; Absent speech; Thick lower lip vermilion; Thin upper lip vermilion; Long eyelashes; Intellectual disability, moderate 0 0 0 0 0 0 1 1
Bosch-Boonstra-Schaaf optic atrophy syndrome 0 0 0 0 0 0 1 1
Breast-ovarian cancer, familial 1 0 0 0 0 0 0 1 1
Breast-ovarian cancer, familial 2 0 0 0 0 0 0 1 1
CHARGE association 0 0 0 0 0 0 1 1
Capillary malformation-arteriovenous malformation 0 0 0 0 0 0 1 1
Cerebral cavernous malformation 0 0 0 0 0 0 1 1
Charcot-Marie-Tooth disease 0 0 0 0 0 0 1 1
Charcot-Marie-Tooth disease, demyelinating, type 1b 0 0 0 0 0 0 1 1
Charcot-Marie-Tooth disease, type 4D 0 0 0 0 0 0 1 1
Charcot-Marie-Tooth disease, type IA 0 0 0 0 0 0 1 1
Chorioretinal atrophy, progressive bifocal 0 0 0 0 0 0 1 1
Chorioretinal atrophy, progressive bifocal; North Carolina macular dystrophy 0 0 0 0 0 0 1 1
Chromosome 15q11-q13 duplication syndrome 0 0 0 0 0 0 1 1
Chromosome 17p13.1 deletion syndrome 0 0 0 0 0 0 1 1
Chromosome 17q12 duplication syndrome 0 0 0 0 0 0 1 1
Chromosome Xq26.3 duplication syndrome 0 0 0 0 0 0 1 1
Ciliary dyskinesia, primary, 28 0 0 0 0 0 0 1 1
Ciliary dyskinesia, primary, 3 0 0 0 0 0 0 1 1
Citrullinemia type I 0 0 0 0 0 0 1 1
Cohen syndrome 0 0 0 0 0 0 1 1
Collagen VI-related myopathy 0 0 0 0 1 0 0 1
Combined oxidative phosphorylation deficiency 31 0 0 0 0 0 0 1 1
Cone monochromatism 0 0 0 0 0 0 1 1
Cone/cone-rod dystrophy 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 0 0 0 1 1
Cornelia de Lange syndrome 1 0 0 0 0 0 0 1 1
Cornelia de Lange syndrome 5 0 0 0 0 0 0 1 1
Currarino triad 0 0 0 0 0 0 1 1
Cystic fibrosis 0 0 0 0 0 0 1 1
Cystinuria 0 0 0 0 0 0 1 1
Deafness, autosomal recessive 16 0 0 0 0 0 0 1 1
Deafness, autosomal recessive 1A 0 0 0 0 0 0 1 1
Deep venous thrombosis 0 0 0 0 0 0 1 1
Deletion of long arm of chromosome 18 0 0 0 0 0 0 1 1
Dent disease 1 0 0 0 0 0 0 1 1
Developmental Split Brain Syndrome 0 0 0 0 0 0 1 1
Dihydropteridine reductase deficiency 0 0 0 0 0 0 1 1
Dilated Cardiomyopathy, Dominant 0 0 0 0 1 0 0 1
Dilated cardiomyopathy 1G 0 0 0 0 0 0 1 1
Duchenne muscular dystrophy 0 0 0 0 0 0 1 1
Early infantile epileptic encephalopathy 0 0 0 0 0 0 1 1
Epilepsy, childhood absence 2; Familial febrile seizures 8 0 0 0 0 0 0 1 1
Epileptic encephalopathy 0 0 0 0 0 0 1 1
Epileptic encephalopathy, early infantile, 1; Spinocerebellar ataxia, autosomal recessive 12 0 0 0 0 0 0 1 1
Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 0 0 0 0 0 0 1 1
Ethylmalonic encephalopathy 0 0 0 0 0 0 1 1
Exudative vitreoretinopathy 1 0 0 0 0 0 0 1 1
Factor X deficiency 0 0 0 0 0 0 1 1
Familial X-linked hypophosphatemic vitamin D refractory rickets 0 0 0 0 0 0 1 1
Familial adenomatous polyposis 1 0 0 0 0 0 0 1 1
Familial cancer of breast 0 0 0 0 0 0 1 1
Familial hypercholesterolemia 0 0 0 0 0 0 1 1
Familial hypokalemia-hypomagnesemia 0 0 0 0 0 0 1 1
Fanconi anemia 0 0 0 0 0 0 1 1
Fanconi anemia, complementation group A 0 0 0 0 0 0 1 1
Fumarase deficiency 0 0 0 0 0 0 1 1
Glioma 0 0 0 0 0 0 1 1
Global developmental delay 0 0 0 0 0 0 1 1
Global developmental delay; Expressive language delay; Postnatal microcephaly 0 0 0 0 0 0 1 1
Global developmental delay; Hypoplasia of the corpus callosum; Abnormality of the cerebral white matter; Periventricular leukomalacia; Delayed myelination; Muscular hypotonia 0 0 0 0 0 0 1 1
Global developmental delay; Seizures; Intellectual disability 0 0 0 0 0 0 1 1
Gorlin syndrome 0 0 0 0 0 0 1 1
Griscelli syndrome type 2 0 0 0 0 0 0 1 1
Hematologic neoplasm 0 0 0 0 0 0 1 1
Hereditary breast and ovarian cancer syndrome 0 0 0 0 0 0 1 1
Hereditary cancer-predisposing syndrome 0 0 0 0 0 0 1 1
Hereditary cutaneous melanoma 0 0 0 0 0 0 1 1
Hereditary factor IX deficiency disease 0 0 0 0 0 0 1 1
Hereditary nonpolyposis colon cancer 0 0 0 0 0 0 1 1
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive 0 0 0 0 0 0 1 1
Hyperparathyroidism 1; Parathyroid carcinoma; Hyperparathyroidism 2 0 0 0 0 0 0 1 1
Hypertrophic cardiomyopathy 0 0 0 0 1 0 0 1
Hypohidrotic X-linked ectodermal dysplasia 0 0 0 0 0 0 1 1
Hypoparathyroidism retardation dysmorphism syndrome 0 0 0 0 0 0 1 1
Hypophosphatemic rickets, X-linked recessive 0 0 0 0 0 0 1 1
Immunodeficiency 23 0 0 0 0 0 0 1 1
Inclusion body myositis; GNE myopathy 0 0 0 0 0 0 1 1
Infantile nephronophthisis 0 0 0 0 0 0 1 1
Infantile neuroaxonal dystrophy 0 0 0 0 0 0 1 1
Intellectual disability 0 0 0 0 0 0 1 1
Intellectual disability, severe 0 0 0 0 0 0 1 1
Intestinal malrotation 0 0 0 0 0 0 1 1
Isolated growth hormone deficiency type 1B 0 0 0 0 0 0 1 1
Jeune thoracic dystrophy 0 0 0 0 0 0 1 1
Joubert syndrome 0 0 0 0 0 0 1 1
Joubert syndrome; Oral-facial-digital syndrome 0 0 0 0 0 0 1 1
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 0 0 0 0 1 0 0 1
Juvenile polyposis syndrome 0 0 0 0 0 0 1 1
Kilquist Syndrome 0 0 0 0 0 0 1 1
Laminin alpha 2-related dystrophy 0 0 0 0 0 0 1 1
Leber congenital amaurosis 0 0 0 0 0 0 1 1
Left ventricular noncompaction cardiomyopathy 0 0 0 0 1 0 0 1
Leptin receptor deficiency 0 0 0 0 0 0 1 1
Lethal multiple pterygium syndrome 0 0 0 0 0 0 1 1
Limb-girdle muscular dystrophy, type 2A 0 0 0 0 0 0 1 1
Loeys-Dietz syndrome 4 0 0 0 0 0 0 1 1
Long QT syndrome 0 1 0 0 0 0 1 1
Lowe syndrome 0 0 0 0 0 0 1 1
MBD5 associated neurodevelopmental disorder 0 0 0 0 0 0 1 1
MECP2 duplication syndrome 0 0 0 0 0 0 1 1
Macrothrombocytopenia 0 0 0 0 0 0 1 1
Majeed syndrome 0 0 0 0 0 0 1 1
Marfan syndrome 0 0 0 0 0 0 1 1
Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 0 0 0 0 0 0 1 1
Marfanoid habitus and intellectual disability 0 0 0 0 0 0 1 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 0 0 0 0 0 0 1 1
Mental retardation, autosomal dominant 18 0 0 0 0 0 0 1 1
Mental retardation, autosomal recessive 7 0 0 0 0 0 0 1 1
Mowat-Wilson syndrome 0 0 0 0 0 0 1 1
Multiple congenital anomalies-hypotonia-seizures syndrome 1 0 0 0 0 0 0 1 1
Multiple congenital anomalies/dysmorphic syndrome-intellectual disability 0 0 0 0 0 0 1 1
Multiple cutaneous leiomyomas; Hereditary cancer-predisposing syndrome 0 0 0 0 0 0 1 1
Multiple exostoses type 2 0 0 0 0 0 0 1 1
Myoclonic dystonia 0 0 0 0 0 0 1 1
Myopathy, distal, 1 0 0 0 0 1 0 0 1
Myosclerosis 0 0 0 0 1 0 0 1
Myosin storage myopathy 0 0 0 0 1 0 0 1
Nemaline myopathy 6 0 0 0 0 0 0 1 1
Neoplasm of the breast 0 0 0 0 0 0 1 1
Nephronophthisis 0 0 0 0 1 0 0 1
Nephronophthisis 1; Senior-Loken syndrome 3 0 0 0 0 0 0 1 1
Neurodevelopmental disorder 0 0 0 0 0 0 1 1
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 0 0 0 0 0 0 1 1
Neuropathy, hereditary motor and sensory, Okinawa type; Spastic paraplegia 57, autosomal recessive 0 0 0 0 1 0 0 1
Optic nerve hypoplasia 0 0 0 0 0 0 1 1
Osler hemorrhagic telangiectasia syndrome 0 0 0 0 0 0 1 1
Osteogenesis imperfecta type 10 0 0 0 0 0 0 1 1
Osteogenesis imperfecta type I 0 0 0 0 0 0 1 1
Ovarian cancer; breast cancer 0 0 0 0 0 0 1 1
PTEN hamartoma tumor syndrome 0 0 0 0 0 0 1 1
Parkinson disease 2 0 0 0 0 0 0 1 1
Pediatric metastatic thyroid tumour 0 0 0 0 0 0 1 1
Pena-Shokeir syndrome type I; Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 0 0 0 0 0 0 1 1
Pitt-Hopkins-like syndrome 2 0 0 0 0 0 0 1 1
Polycystic kidney disease, adult type 0 0 0 0 0 0 1 1
Polydactyly; Abnormal heart morphology; Bilateral cleft lip and palate; Phocomelia 0 0 0 0 0 0 1 1
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 0 0 0 0 0 0 1 1
Poretti-Boltshauser syndrome 0 0 0 0 0 0 1 1
Prader-Willi syndrome 0 0 0 0 0 0 1 1
Premature ovarian insufficiency 0 0 0 0 0 0 1 1
Primary amenorrhea 0 0 0 0 1 0 0 1
Primary ciliary dyskinesia 0 0 0 0 0 0 1 1
Progressive intrahepatic cholestasis 0 0 0 0 0 0 1 1
Progressive myoclonus epilepsy with ataxia 0 0 0 0 0 0 1 1
Pseudoxanthoma elasticum 0 0 0 0 0 0 1 1
RHD DEL 0 0 0 0 0 0 1 1
Reduced antithrombin III activity 0 0 0 0 0 0 1 1
Reduced protein S activity 0 0 0 0 0 0 1 1
Renal cyst; Pancreatic cysts 0 0 0 0 0 0 1 1
Renal transitional cell carcinoma 0 0 0 0 0 0 1 1
Retinal dystrophy 0 0 0 0 0 0 1 1
Retinitis pigmentosa 0 0 0 0 0 0 1 1
RhD negative 0 0 0 0 0 0 1 1
Rigidity and multifocal seizure syndrome, lethal neonatal 0 0 0 0 0 0 1 1
Robin sequence; Intellectual disability, mild; Bilateral conductive hearing impairment; Abnormality of esophagus physiology 0 0 0 0 0 0 1 1
SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY 0 0 0 0 0 0 1 1
Scapuloperoneal myopathy 0 0 0 0 1 0 0 1
Schizophrenia 0 0 0 0 0 0 1 1
Schizophrenia 17 0 0 0 0 0 0 1 1
See cases 0 0 0 0 0 0 1 1
Seizures; Intellectual disability 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 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 1 0 0 1
Spastic paraplegia 4, autosomal dominant 0 0 0 0 0 0 1 1
Spherocytosis type 2 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 0 0 0 1 1
Spinocerebellar ataxia 15 0 0 0 0 0 0 1 1
Spinocerebellar ataxia 27 0 0 0 0 0 0 1 1
Spinocerebellar ataxia, autosomal recessive 18 0 0 0 0 0 0 1 1
Split-Hand/Foot Malformation 0 0 0 0 0 0 1 1
Spondylocostal dysostosis 5 0 0 0 0 0 0 1 1
Stargardt disease 1 0 0 0 0 0 0 1 1
Sudden cardiac death 0 0 0 0 0 0 1 1
T-cell acute lymphoblastic leukemia 0 0 0 0 0 0 1 1
TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy 0 0 0 0 0 0 1 1
TRPM4-Related Disorders 0 0 0 0 1 0 0 1
Tetralogy of Fallot 0 0 0 0 0 0 1 1
Thoracic aortic aneurysm and aortic dissection 0 0 0 0 0 0 1 1
Thrombocytopenia 0 0 0 0 0 0 1 1
Treacher Collins syndrome 1 0 0 0 0 0 0 1 1
Trichorhinophalangeal dysplasia type I 0 0 0 0 0 0 1 1
Tuberous sclerosis 2 0 0 0 0 0 0 1 1
Tyrosinase-positive oculocutaneous albinism 0 0 0 0 0 0 1 1
Uniparental disomy, paternal, chromosome 14 0 0 0 0 0 0 1 1
Usher syndrome 0 0 0 0 0 0 1 1
Ventricular fibrillation 0 0 0 0 1 0 0 1
Vici syndrome 0 0 0 0 0 0 1 1
Visceral myopathy 0 0 0 0 0 0 1 1
Vitamin B2 deficiency 0 0 0 0 0 0 1 1
Wilson disease 0 0 0 0 0 0 1 1
alpha Thalassemia 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 30
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HGVS dbSNP
NM_017636.4(TRPM4):c.1150+1G>A rs200132598
NM_017636.4(TRPM4):c.1164G>A (p.Ser388=) rs144201184
NM_017636.4(TRPM4):c.1242T>C (p.Phe414=) rs200633475
NM_017636.4(TRPM4):c.1294G>A (p.Ala432Thr) rs201907325
NM_017636.4(TRPM4):c.1368C>G (p.Thr456=) rs56118173
NM_017636.4(TRPM4):c.1459_1494del (p.Lys487_Leu498del) rs878855029
NM_017636.4(TRPM4):c.1575G>A (p.Trp525Ter) rs71352737
NM_017636.4(TRPM4):c.1682A>C (p.Asp561Ala) rs56355369
NM_017636.4(TRPM4):c.1744G>A (p.Gly582Ser) rs172149856
NM_017636.4(TRPM4):c.2254C>T (p.Gln752Ter) rs769917929
NM_017636.4(TRPM4):c.2283_2294del (p.759_762CGGR[1]) rs113100797
NM_017636.4(TRPM4):c.24+6C>G rs767900879
NM_017636.4(TRPM4):c.249C>T (p.Ala83=) rs142270489
NM_017636.4(TRPM4):c.2531G>A (p.Gly844Asp) rs200038418
NM_017636.4(TRPM4):c.2674C>T (p.Arg892Cys) rs147854826
NM_017636.4(TRPM4):c.2740A>T (p.Lys914Ter) rs140799936
NM_017636.4(TRPM4):c.2934T>C (p.Ile978=) rs35516880
NM_017636.4(TRPM4):c.2982G>A (p.Ser994=) rs1175810
NM_017636.4(TRPM4):c.3024G>A (p.Ala1008=) rs35145363
NM_017636.4(TRPM4):c.3073G>A (p.Val1025Ile) rs186822052
NM_017636.4(TRPM4):c.3082C>T (p.Leu1028=) rs79286201
NM_017636.4(TRPM4):c.308A>G (p.Tyr103Cys) rs144781529
NM_017636.4(TRPM4):c.322C>T (p.Arg108Cys) rs115335683
NM_017636.4(TRPM4):c.3611C>T (p.Pro1204Leu) rs150391806
NM_017636.4(TRPM4):c.448+6C>T rs78051297
NM_017636.4(TRPM4):c.449-10G>A rs78444754
NM_017636.4(TRPM4):c.618G>A (p.Ser206=) rs142788545
NM_017636.4(TRPM4):c.783G>A (p.Lys261=) rs111930830
NM_017636.4(TRPM4):c.870C>T (p.Asn290=) rs141997826
Single allele

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