ClinVar Miner

Variants from Roden Lab, Vanderbilt University Medical Center with conflicting interpretations

Location: United States  Primary collection method: research
Minimum review status of the submission from Roden Lab, Vanderbilt University Medical Center: Collection method of the submission from Roden Lab, Vanderbilt University Medical Center:
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 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
49 15 0 3 16 0 5 24

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
Roden Lab, Vanderbilt University Medical Center pathogenic likely pathogenic uncertain significance
pathogenic 0 0 1
likely pathogenic 3 0 2
uncertain significance 0 2 0
likely benign 0 0 16

Submitter to submitter summary #

Total submitters: 12
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
Illumina Laboratory Services, Illumina 0 4 0 0 14 0 0 14
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 2 0 0 0 0 2 2
Invitae 0 7 0 0 2 0 0 2
Molecular Genetics Laboratory - Cardiogenetics, CHU de Nantes 0 1 0 2 0 0 0 2
Baylor Genetics 0 1 0 1 0 0 0 1
GeneDx 0 0 0 0 0 0 1 1
Ambry Genetics 0 0 0 0 0 0 1 1
PreventionGenetics, part of Exact Sciences 0 0 0 0 0 0 1 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 0 0 0 0 1 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 24
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.1569T>A (p.Arg523=) rs41313693 0.00351
NM_000335.5(SCN5A):c.1068T>C (p.Asp356=) rs41313703 0.00349
NM_000335.5(SCN5A):c.3870G>A (p.Leu1290=) rs41313033 0.00113
NM_000335.5(SCN5A):c.2437-5C>A rs72549411 0.00045
NM_001458.5(FLNC):c.970-4A>G rs532143625 0.00015
NM_000335.5(SCN5A):c.4167C>T (p.Thr1389=) rs747356664 0.00012
NM_000335.5(SCN5A):c.1152C>T (p.Ser384=) rs372970828 0.00011
NM_000335.5(SCN5A):c.2151G>A (p.Pro717=) rs191840835 0.00011
NM_000335.5(SCN5A):c.1575C>T (p.Ser525=) rs370684004 0.00004
NM_000335.5(SCN5A):c.2181C>T (p.Ile727=) rs186942072 0.00004
NM_000335.5(SCN5A):c.2259C>T (p.Asn753=) rs878911306 0.00004
NM_000335.5(SCN5A):c.3663+4C>G rs539737269 0.00003
NM_000335.5(SCN5A):c.3795C>T (p.Tyr1265=) rs371610895 0.00002
NM_000335.5(SCN5A):c.495C>T (p.Thr165=) rs62242804 0.00002
NM_000335.5(SCN5A):c.655C>T (p.Arg219Cys) rs762012668 0.00002
NM_000218.3(KCNQ1):c.683+5G>A rs397508122 0.00001
NM_000335.5(SCN5A):c.1491T>G (p.Ser497=) rs761505485 0.00001
NM_000335.5(SCN5A):c.3388-3T>C rs949932623 0.00001
NM_000335.5(SCN5A):c.4005C>T (p.Asn1335=) rs746892102 0.00001
NM_000218.3(KCNQ1):c.1032+5G>A rs397508071
NM_000238.4(KCNH2):c.1128G>A (p.Gln376=) rs770047651
NM_000335.5(SCN5A):c.4810+5G>A rs2125830430
NM_000335.5(SCN5A):c.611C>T (p.Ala204Val) rs199473559
NM_000335.5(SCN5A):c.935-3C>G rs766127222

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