ClinVar Miner

Variants from Section on Endocrinology and Genetics,National Institutes of Health / The Eunice Kennedy Shriver National Institute of Child Health and Human Development with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from Section on Endocrinology and Genetics,National Institutes of Health / The Eunice Kennedy Shriver National Institute of Child Health and Human Development: Collection method of the submission from Section on Endocrinology and Genetics,National Institutes of Health / The Eunice Kennedy Shriver National Institute of Child Health and Human Development:
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
1 0 0 4 0 0 1 5

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 Endocrinology and Genetics,National Institutes of Health / The Eunice Kennedy Shriver National Institute of Child Health and Human Development pathogenic uncertain significance
likely pathogenic 4 1

Submitter to submitter summary #

Total submitters: 13
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 1 0 3 0 0 0 3
Invitae 0 0 0 2 0 0 1 3
OMIM 0 0 0 2 0 0 0 2
GeneDx 0 0 0 2 0 0 0 2
Center for Human Genetics, Inc 0 0 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 0 1 0 0 0 1
Counsyl 0 0 0 1 0 0 0 1
GeneReviews 0 0 0 1 0 0 0 1
Fulgent Genetics 0 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology 0 0 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 0 1 0 0 0 1
Department of Pediatrics,Memorial Sloan Kettering Cancer Center 0 0 0 1 0 0 0 1
Clinical Genomics Lab,St. Jude Children's Research Hospital 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 5
Download table as spreadsheet
HGVS dbSNP
NM_003000.2(SDHB):c.380T>G (p.Ile127Ser) rs786201095
NM_003001.3(SDHC):c.224G>A (p.Gly75Asp) rs786205147
NM_003001.3(SDHC):c.405+1G>A rs587776653
NM_003001.3(SDHC):c.6delT (p.Ala3Argfs) rs786205146
NM_004168.3(SDHA):c.91C>T (p.Arg31Ter) rs142441643

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