ClinVar Miner

Variants from Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust with conflicting interpretations

Location: United Kingdom — Primary collection method: literature only
Minimum review status of the submission from Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust: Collection method of the submission from Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust:
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
736 743 0 13 6 0 17 33

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
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust pathogenic likely pathogenic uncertain significance likely benign benign
likely pathogenic 13 0 10 2 0
uncertain significance 3 8 0 6 2

Submitter to submitter summary #

Total submitters: 19
Download table as spreadsheet
Submitter 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
Invitae 0 485 0 9 6 0 9 22
GeneDx 0 417 0 8 1 0 6 15
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 44 0 1 0 0 5 6
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 145 0 0 2 0 2 4
Athena Diagnostics Inc 0 20 0 1 1 0 1 3
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust 1503 6 0 0 0 0 3 3
Blueprint Genetics 0 43 0 1 1 0 1 3
Baylor Genetics 0 0 0 1 0 0 1 2
Illumina Clinical Services Laboratory,Illumina 0 38 0 0 1 0 1 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 37 0 0 0 0 2 2
OMIM 0 114 0 1 0 0 0 1
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 57 0 0 1 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 34 0 0 0 0 1 1
Ambry Genetics 0 209 0 0 0 0 1 1
Mendelics 0 65 0 0 1 0 0 1
Fulgent Genetics,Fulgent Genetics 0 31 0 1 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 81 0 0 0 0 1 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 48 0 1 0 0 0 1
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 18 0 0 1 0 1 1

All variants with conflicting interpretations #

Total variants: 33
Download table as spreadsheet
HGVS dbSNP
NM_001256850.1(TTN):c.28091-2A>C rs6716782
NM_001256850.1(TTN):c.44423-1G>A rs869312070
NM_001267550.2(TTN):c.104092C>T (p.Arg34698Ter) rs727504184
NM_001267550.2(TTN):c.107377+1G>A rs112188483
NM_001267550.2(TTN):c.11183dup (p.Leu3729fs) rs778172350
NM_001267550.2(TTN):c.11912G>A (p.Trp3971Ter) rs869312102
NM_001267550.2(TTN):c.13900G>T (p.Glu4634Ter) rs869312103
NM_001267550.2(TTN):c.27328+5G>A rs397517521
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met) rs142951505
NM_001267550.2(TTN):c.31763-1G>A rs202234172
NM_001267550.2(TTN):c.39044-9T>A rs184888200
NM_001267550.2(TTN):c.40558G>C (p.Val13520Leu) rs587780488
NM_001267550.2(TTN):c.41473C>T (p.Arg13825Ter) rs869312043
NM_001267550.2(TTN):c.44281+1G>A rs771562210
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser) rs192766485
NM_001267550.2(TTN):c.44284C>T (p.Arg14762Ter) rs770767998
NM_001267550.2(TTN):c.4719_4723TGAAA[1] (p.Met1575fs) rs756433029
NM_001267550.2(TTN):c.50170C>T (p.Arg16724Ter) rs794729265
NM_001267550.2(TTN):c.62506C>T (p.Arg20836Ter) rs757231565
NM_001267550.2(TTN):c.63025C>T (p.Arg21009Ter) rs368452607
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter) rs574660186
NM_001267550.2(TTN):c.74338C>T (p.Arg24780Ter) rs794729285
NM_001267550.2(TTN):c.76115dup (p.Asn25372fs) rs774604740
NM_001267550.2(TTN):c.81321C>G (p.Tyr27107Ter) rs557312035
NM_001267550.2(TTN):c.83515C>T (p.Arg27839Ter) rs869312118
NM_001267550.2(TTN):c.85090C>T (p.Arg28364Ter) rs770038577
NM_001267550.2(TTN):c.87716del (p.Gly29239fs) rs869312028
NM_001267550.2(TTN):c.91715dup (p.Asn30572fs) rs779129892
NM_001267550.2(TTN):c.92279_92283AAAAG[3] (p.Ser30763fs) rs756367933
NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter) rs72648250
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs) rs397517776
NM_019056.6(NDUFB11):c.262C>T (p.Arg88Ter) rs786205225
NM_133378.4(TTN):c.10361-1G>A rs869312099

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