ClinVar Miner

Variants from Section on Medical Neuroendocrinolgy,National Institutes of Health with conflicting interpretations

Location: United States — Primary collection method: research
Minimum review status of the submission from Section on Medical Neuroendocrinolgy,National Institutes of Health: Collection method of the submission from Section on Medical Neuroendocrinolgy,National Institutes of Health:
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
31 24 2 16 0 0 10 25

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
Section on Medical Neuroendocrinolgy,National Institutes of Health pathogenic likely pathogenic uncertain significance likely benign
pathogenic 2 8 6 1
likely pathogenic 8 0 1 0
uncertain significance 2 1 0 0

Submitter to submitter summary #

Total submitters: 16
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
Ambry Genetics 0 27 0 9 0 0 4 13
Invitae 0 29 0 2 0 0 5 7
GeneDx 0 19 0 4 0 0 2 6
OMIM 0 11 0 2 0 0 1 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 8 0 2 0 0 1 3
Counsyl 0 1 0 2 0 0 1 3
Center for Human Genetics, Inc 0 8 0 2 0 0 0 2
GeneReviews 0 0 2 0 0 0 0 2
Athena Diagnostics Inc 0 0 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 0 0 1 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 4 0 0 0 0 1 1
Mendelics 0 0 0 0 0 0 1 1
Illumina Clinical Services Laboratory,Illumina 0 0 0 1 0 0 0 1
CSER_CC_NCGL; University of Washington Medical Center 0 0 0 0 0 0 1 1
Snyder Lab, Genetics Department,Stanford University 0 0 0 1 0 0 0 1
Gharavi Laboratory,Columbia University 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 25
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HGVS dbSNP
NM_003000.2(SDHB):c.136C>T (p.Arg46Ter) rs74315370
NM_003000.2(SDHB):c.137G>A (p.Arg46Gln) rs772551056
NM_003000.2(SDHB):c.1A>T (p.Met1Leu) rs1131691049
NM_003000.2(SDHB):c.277T>C (p.Cys93Arg) rs727503415
NM_003000.2(SDHB):c.286+1G>A rs786201063
NM_003000.2(SDHB):c.286+2T>A rs587781270
NM_003000.2(SDHB):c.287-1G>C rs397516833
NM_003000.2(SDHB):c.287G>A (p.Gly96Asp) rs778952116
NM_003000.2(SDHB):c.32G>A (p.Arg11His) rs111430410
NM_003000.2(SDHB):c.418G>T (p.Val140Phe) rs267607032
NM_003000.2(SDHB):c.445C>T (p.Gln149Ter) rs876658451
NM_003000.2(SDHB):c.541-2A>G rs786201161
NM_003000.2(SDHB):c.574T>C (p.Cys192Arg) rs786202732
NM_003000.2(SDHB):c.575G>A (p.Cys192Tyr) rs397516835
NM_003000.2(SDHB):c.590C>G (p.Pro197Arg) rs74315367
NM_003000.2(SDHB):c.80G>A (p.Arg27Gln) rs373976827
NM_003001.3(SDHC):c.377A>G (p.Tyr126Cys) rs898854295
NM_003001.3(SDHC):c.405+1G>A rs587776653
NM_003002.2(SDHD):c.53dupC (p.Leu19Serfs) rs886041237
NM_003002.3(SDHD):c.112C>T (p.Arg38Ter) rs80338843
NM_003002.3(SDHD):c.148C>G (p.His50Asp) rs779249550
NM_003002.3(SDHD):c.209G>A (p.Arg70Lys) rs755047928
NM_003002.3(SDHD):c.242C>T (p.Pro81Leu) rs80338844
NM_003002.3(SDHD):c.298_301delACTC (p.Thr100Phefs) rs786203067
NM_003002.3(SDHD):c.479G>T (p.Ter160Leu) rs201372601

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