ClinVar Miner

Variants from Geisinger Autism and Developmental Medicine Institute,Geisinger Health System with conflicting interpretations

Location: United States — Primary collection method: provider interpretation
Minimum review status of the submission from Geisinger Autism and Developmental Medicine Institute,Geisinger Health System: Collection method of the submission from Geisinger Autism and Developmental Medicine Institute,Geisinger Health System:
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
235 48 3 9 2 3 8 20

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
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 3 7 4 0 0 3
likely pathogenic 2 0 1 0 0 0
uncertain significance 0 3 0 1 1 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
GeneDx 0 54 0 4 0 0 3 7
OMIM 0 5 0 1 0 3 0 4
GeneReviews 0 1 3 0 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 5 0 1 0 0 1 2
Ambry Genetics 0 8 0 1 0 0 1 2
Baylor Miraca Genetics Laboratories, 0 0 0 0 0 0 1 1
Athena Diagnostics Inc 0 2 0 0 1 0 0 1
PreventionGenetics 0 0 0 0 0 0 1 1
Integrated Genetics/Laboratory Corporation of America 0 2 0 1 0 0 0 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 9 0 0 1 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 0 0 0 0 1 1
Illumina Clinical Services Laboratory,Illumina 0 5 0 0 0 0 1 1
Section on Endocrinology and Genetics,National Institutes of Health / The Eunice Kennedy Shriver National Institute of Child Health and Human Development 0 0 0 1 0 0 0 1
Color 0 1 0 1 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 20
Download table as spreadsheet
HGVS dbSNP
NM_000199.3(SGSH):c.1063G>A (p.Glu355Lys) rs766938111
NM_000199.3(SGSH):c.673T>C (p.Phe225Leu) rs1057521801
NM_000248.3(MITF):c.952G>A (p.Glu318Lys) rs149617956
NM_000314.4(PTEN):c.947T>C (p.Leu316Pro) rs1064793345
NM_000430.3(PAFAH1B1):c.162delA (p.Lys54Asnfs) rs113994198
NM_000535.6(PMS2):c.1731_1732delGCinsAGT (p.Arg578Valfs) rs1057515572
NM_000721.3(CACNA1E):c.4777A>G (p.Ile1593Val) rs1159957403
NM_001193466.1(KANSL1):c.868C>T (p.Arg290Ter) rs149830411
NM_002016.1(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002016.1(FLG):c.2282_2285delCAGT (p.Ser761Cysfs) rs558269137
NM_002693.2(POLG):c.2542G>A (p.Gly848Ser) rs113994098
NM_002880.3(RAF1):c.1871C>G (p.Ser624Cys) rs1057524239
NM_004168.3(SDHA):c.91C>T (p.Arg31Ter) rs142441643
NM_004519.3(KCNQ3):c.689G>A (p.Arg230His) rs749205120
NM_006245.3(PPP2R5D):c.758G>A (p.Arg253Gln) rs1131691266
NM_018136.4(ASPM):c.6916_6919delTTAC (p.Leu2306Serfs) rs1064795945
NM_021150.3(GRIP1):c.1600A>C (p.Ile534Leu) rs189438534
NM_024312.4(GNPTAB):c.3503_3504delTC (p.Leu1168Glnfs) rs34002892
NM_024570.3(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679
NM_130837.2(OPA1):c.113_130delGAAGCATTTATCATTCAC (p.Arg38_Ser43del) rs863224140

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