ClinVar Miner

Variants from ClinGen Hereditary Hemorrhagic Telangiectasia Variant Curation Expert Panel, ClinGen with conflicting interpretations

Location: United States  Primary collection method: curation
Minimum review status of the submission from ClinGen Hereditary Hemorrhagic Telangiectasia Variant Curation Expert Panel, ClinGen: Collection method of the submission from ClinGen Hereditary Hemorrhagic Telangiectasia Variant Curation Expert Panel, ClinGen:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

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 per condition Variants with at least 2 submissions on the same condition 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 conflict
4 21 0 19 5 0 4 27

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 submitters
ClinGen Hereditary Hemorrhagic Telangiectasia Variant Curation Expert Panel, ClinGen pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 3 1 0 0
likely pathogenic 7 0 1 0 0
uncertain significance 0 2 0 3 0
likely benign 0 0 2 0 8
benign 0 0 0 1 0

Submitter to submitter summary #

Total submitters: 14
Download table as spreadsheet
Submitter Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition 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 conflict
Labcorp Genetics (formerly Invitae), Labcorp 0 31 0 11 3 0 2 16
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 13 0 4 1 0 2 7
NIHR Bioresource Rare Diseases, University of Cambridge 0 3 0 4 0 0 0 4
Illumina Laboratory Services, Illumina 0 6 0 2 1 0 0 3
Mendelics 0 0 0 3 0 0 0 3
Genome-Nilou Lab 0 0 0 2 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 11 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 27
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp) rs41322046 0.01000
NM_001114753.3(ENG):c.1510G>A (p.Val504Met) rs116330805 0.00311
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val) rs139142865 0.00203
NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu) rs148002300 0.00134
NM_001114753.3(ENG):c.1447G>A (p.Val483Ile) rs141330288 0.00038
NM_001114753.3(ENG):c.1633G>A (p.Gly545Ser) rs142896669 0.00036
NM_000020.3(ACVRL1):c.1348A>G (p.Thr450Ala) rs146206499 0.00031
NM_000020.3(ACVRL1):c.88C>T (p.Pro30Ser) rs149664056 0.00031
NM_001114753.3(ENG):c.1258A>G (p.Met420Val) rs143724056 0.00027
NM_000020.3(ACVRL1):c.652C>T (p.Arg218Trp) rs199874575 0.00021
NM_001114753.3(ENG):c.1711C>T (p.Arg571Cys) rs764262721 0.00005
NM_001114753.3(ENG):c.1316A>C (p.Lys439Thr) rs368533266 0.00004
NM_000020.3(ACVRL1):c.511G>A (p.Asp171Asn) rs369436815 0.00002
NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln) rs121909284
NM_000020.3(ACVRL1):c.137G>C (p.Cys46Ser) rs1555152454
NM_000020.3(ACVRL1):c.293A>G (p.Asn98Ser) rs1085307406
NM_000020.3(ACVRL1):c.500C>G (p.Ser167Cys) rs2540160946
NM_000020.3(ACVRL1):c.706G>A (p.Glu236Lys) rs1592223490
NM_000020.3(ACVRL1):c.982C>T (p.His328Tyr) rs1592224291
NM_001114753.3(ENG):c.1160T>C (p.Leu387Pro) rs1564453623
NM_001114753.3(ENG):c.1268A>G (p.Asn423Ser) rs1830431553
NM_001114753.3(ENG):c.1319T>G (p.Val440Gly) rs1554809363
NM_001114753.3(ENG):c.1586G>A (p.Arg529His) rs863223538
NM_001114753.3(ENG):c.1645T>G (p.Cys549Gly) rs1830376644
NM_001114753.3(ENG):c.1807G>A (p.Gly603Arg) rs1830302008
NM_001114753.3(ENG):c.662T>C (p.Leu221Pro) rs1554810378
NM_001114753.3(ENG):c.991G>A (p.Gly331Ser) rs1060501410

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