ClinVar Miner

Variants with conflicting interpretations studied for Mental retardation, autosomal dominant 6; Epileptic encephalopathy, early infantile, 27

Coded as:
Minimum review status of the submission for Mental retardation, autosomal dominant 6; Epileptic encephalopathy, early infantile, 27: Y axis collection method of the submission for Mental retardation, autosomal dominant 6; Epileptic encephalopathy, early infantile, 27:
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
76 26 0 19 23 0 6 40

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 conditions
Mental retardation, autosomal dominant 6; Epileptic encephalopathy, early infantile, 27 pathogenic likely pathogenic uncertain significance likely benign benign
uncertain significance 6 2 0 6 1
likely benign 0 0 9 0 2
benign 0 0 8 17 0

Condition to condition summary #

Total conditions: 9
Download table as spreadsheet
Condition 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
not specified 0 27 0 8 10 0 0 16
Intellectual Disability, Dominant 0 2 0 4 11 0 0 15
History of neurodevelopmental disorder 0 16 0 10 2 0 0 12
not provided 0 20 0 0 2 0 3 5
Mental retardation, autosomal dominant 6 0 1 0 3 0 0 1 4
Epileptic encephalopathy, early infantile, 27 0 0 0 0 0 0 2 2
Inborn genetic diseases 0 1 0 0 0 0 2 2
Astigmatism; Motor delay; Delayed speech and language development; Joint hypermobility; Long fingers 0 0 0 0 0 0 1 1
Mental retardation, autosomal dominant 6; Epileptic encephalopathy, early infantile, 27 140 1 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 40
Download table as spreadsheet
HGVS dbSNP
NM_000834.4(GRIN2B):c.1338A>G (p.Thr446=) rs141031272
NM_000834.4(GRIN2B):c.140A>G (p.Glu47Gly) rs199526748
NM_000834.4(GRIN2B):c.1547A>G (p.Asn516Ser) rs886041295
NM_000834.4(GRIN2B):c.1851C>T (p.Ser617=) rs147373250
NM_000834.4(GRIN2B):c.190G>A (p.Val64Met) rs150070901
NM_000834.4(GRIN2B):c.2002G>A (p.Asp668Asn) rs876661151
NM_000834.4(GRIN2B):c.2053A>C (p.Thr685Pro) rs869312669
NM_000834.4(GRIN2B):c.2087G>A (p.Arg696His) rs1555103971
NM_000834.4(GRIN2B):c.2172-10delT rs761900678
NM_000834.4(GRIN2B):c.2172-8C>T rs751592819
NM_000834.4(GRIN2B):c.2202A>G (p.Ala734=) rs148185805
NM_000834.4(GRIN2B):c.2247G>A (p.Val749=) rs757990373
NM_000834.4(GRIN2B):c.228C>T (p.Thr76=) rs77299791
NM_000834.4(GRIN2B):c.2459G>C (p.Gly820Ala) rs797044849
NM_000834.4(GRIN2B):c.2481G>A (p.Ala827=) rs189384622
NM_000834.4(GRIN2B):c.2691C>T (p.Asn897=) rs35125534
NM_000834.4(GRIN2B):c.2703G>A (p.Leu901=) rs145005918
NM_000834.4(GRIN2B):c.2813G>A (p.Arg938His) rs150445188
NM_000834.4(GRIN2B):c.291G>A (p.Val97=) rs202223470
NM_000834.4(GRIN2B):c.3076G>A (p.Gly1026Ser) rs201963596
NM_000834.4(GRIN2B):c.3117C>T (p.Tyr1039=) rs147762014
NM_000834.4(GRIN2B):c.3174C>T (p.Ser1058=) rs772364390
NM_000834.4(GRIN2B):c.3332G>A (p.Arg1111His) rs876661167
NM_000834.4(GRIN2B):c.3498C>T (p.Ser1166=) rs45600931
NM_000834.4(GRIN2B):c.3552C>T (p.Gly1184=) rs141886903
NM_000834.4(GRIN2B):c.3747C>T (p.Gly1249=) rs138771137
NM_000834.4(GRIN2B):c.3799G>T (p.Ala1267Ser) rs141844705
NM_000834.4(GRIN2B):c.3807A>T (p.Pro1269=) rs78765966
NM_000834.4(GRIN2B):c.3837T>G (p.Thr1279=) rs1806200
NM_000834.4(GRIN2B):c.3981G>A (p.Lys1327=) rs201670483
NM_000834.4(GRIN2B):c.3993G>A (p.Met1331Ile) rs200035225
NM_000834.4(GRIN2B):c.4105G>A (p.Gly1369Ser) rs371190262
NM_000834.4(GRIN2B):c.4113C>T (p.Tyr1371=) rs146792012
NM_000834.4(GRIN2B):c.4218C>T (p.Phe1406=) rs1805246
NM_000834.4(GRIN2B):c.4230G>A (p.Thr1410=) rs149655315
NM_000834.4(GRIN2B):c.4322G>A (p.Arg1441His) rs200903876
NM_000834.4(GRIN2B):c.504C>A (p.Ile168=) rs36031537
NM_000834.4(GRIN2B):c.61G>A (p.Val21Met) rs79046967
NM_000834.4(GRIN2B):c.732C>G (p.Ala244=) rs201554036
NM_000834.4(GRIN2B):c.870C>T (p.Pro290=) rs1124894

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