ClinVar Miner

Variants with conflicting interpretations studied for Intellectual Disability, Recessive

Coded as:
Minimum review status of the submission for Intellectual Disability, Recessive: Y axis collection method of the submission for Intellectual Disability, Recessive:
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
140 26 0 29 34 0 0 63

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
Intellectual Disability, Recessive likely benign benign
uncertain significance 28 11
likely benign 0 15
benign 14 0

Condition to condition summary #

Total conditions: 4
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
History of neurodevelopmental disorder 0 24 0 15 25 0 0 40
not specified 0 30 0 18 17 0 0 35
Mental retardation, autosomal recessive 15 0 0 0 2 3 0 0 5
not provided 0 5 0 0 5 0 0 5

All variants with conflicting interpretations #

Total variants: 63
Download table as spreadsheet
HGVS dbSNP
NM_003619.3(PRSS12):c.1281A>G (p.Gln427=) rs2292597
NM_003619.3(PRSS12):c.51A>G (p.Glu17=) rs144853134
NM_016219.4(MAN1B1):c.1433A>G (p.Lys478Arg) rs138658585
NM_016219.4(MAN1B1):c.1485A>G (p.Arg495=) rs113472164
NM_016219.4(MAN1B1):c.1695G>A (p.Thr565=) rs372125925
NM_016219.4(MAN1B1):c.1761C>G (p.Val587=) rs115889896
NM_016219.4(MAN1B1):c.1765-5C>A rs12115325
NM_016219.4(MAN1B1):c.176A>G (p.Asn59Ser) rs968733
NM_016219.4(MAN1B1):c.183C>T (p.Asp61=) rs202182837
NM_016219.4(MAN1B1):c.1905G>T (p.Ser635=) rs114484315
NM_016219.4(MAN1B1):c.1932C>T (p.Val644=) rs34355967
NM_016219.4(MAN1B1):c.1956T>C (p.Pro652=) rs75234317
NM_016219.4(MAN1B1):c.1980C>T (p.Phe660=) rs140496149
NM_016219.4(MAN1B1):c.2046T>C (p.Asp682=) rs4880091
NM_016219.4(MAN1B1):c.2052C>T (p.Tyr684=) rs118117962
NM_016219.4(MAN1B1):c.347A>G (p.Glu116Gly) rs115335100
NM_016219.4(MAN1B1):c.590C>T (p.Pro197Leu) rs61744585
NM_016219.4(MAN1B1):c.635T>G (p.Val212Gly) rs186504463
NM_016219.4(MAN1B1):c.657C>T (p.Thr219=) rs564784943
NM_016219.4(MAN1B1):c.717A>G (p.Thr239=) rs112434939
NM_016219.4(MAN1B1):c.744T>C (p.Tyr248=) rs138435910
NM_016219.4(MAN1B1):c.768C>T (p.Val256=) rs145906530
NM_017755.5(NSUN2):c.1749G>A (p.Thr583=) rs13181449
NM_017755.5(NSUN2):c.1879G>A (p.Val627Ile) rs2303708
NM_017755.5(NSUN2):c.2043G>A (p.Arg681=) rs150785220
NM_017755.5(NSUN2):c.2143G>A (p.Val715Ile) rs112951498
NM_017755.5(NSUN2):c.2193C>T (p.Asp731=) rs3822434
NM_017755.5(NSUN2):c.21T>C (p.Gly7=) rs184594943
NM_017755.5(NSUN2):c.2272T>C (p.Cys758Arg) rs149244771
NM_017755.5(NSUN2):c.2279C>A (p.Pro760Gln) rs61744358
NM_017755.5(NSUN2):c.22C>T (p.Arg8Trp) rs181415619
NM_017755.5(NSUN2):c.2300G>A (p.Arg767Gln) rs140673211
NM_017755.5(NSUN2):c.258C>T (p.His86=) rs141912087
NM_017755.5(NSUN2):c.510G>A (p.Leu170=) rs144888290
NM_017755.5(NSUN2):c.51G>A (p.Glu17=) rs10062086
NM_017755.5(NSUN2):c.97-6C>T rs10076470
NM_031466.7(TRAPPC9):c.1458C>T (p.Tyr486=) rs148976893
NM_031466.7(TRAPPC9):c.160A>G (p.Ser54Gly) rs148523016
NM_031466.7(TRAPPC9):c.1701C>T (p.Tyr567=) rs117632905
NM_031466.7(TRAPPC9):c.1752C>T (p.Phe584=) rs34179337
NM_031466.7(TRAPPC9):c.1986C>T (p.Asn662=) rs12549048
NM_031466.7(TRAPPC9):c.2163C>T (p.Ser721=) rs117685875
NM_031466.7(TRAPPC9):c.2586C>T (p.Gly862=) rs11166965
NM_031466.7(TRAPPC9):c.2725+7G>A rs11166964
NM_031466.7(TRAPPC9):c.3090C>T (p.Ala1030=) rs145607512
NM_031466.7(TRAPPC9):c.3091G>A (p.Gly1031Ser) rs114949291
NM_031466.7(TRAPPC9):c.3093T= (p.Gly1031=) rs2614718
NM_031466.7(TRAPPC9):c.3282G>A (p.Glu1094=) rs142048892
NM_031466.7(TRAPPC9):c.3457G>A (p.Val1153Ile) rs35578974
NM_031466.7(TRAPPC9):c.3519C>T (p.Tyr1173=) rs58740567
NM_031466.7(TRAPPC9):c.3543C>T (p.Phe1181=) rs112551069
NM_031466.7(TRAPPC9):c.3573+4C>T rs79877357
NM_031466.7(TRAPPC9):c.3585C>T (p.Ser1195=) rs148857575
NM_031466.7(TRAPPC9):c.3705C>A (p.Pro1235=) rs373979305
NM_031466.7(TRAPPC9):c.3708T>G (p.Ser1236Arg) rs147127279
NM_031466.7(TRAPPC9):c.501T>C (p.Gly167=) rs3735801
NM_031466.7(TRAPPC9):c.582T>C (p.Phe194=) rs3735802
NM_031466.7(TRAPPC9):c.651G>A (p.Gly217=) rs34457678
NM_031466.7(TRAPPC9):c.693T>C (p.Ala231=) rs61739560
NM_031466.7(TRAPPC9):c.705C>T (p.Asn235=) rs3735803
NM_031466.7(TRAPPC9):c.708C>T (p.Tyr236=) rs115986561
NM_031466.7(TRAPPC9):c.849G>A (p.Lys283=) rs57593250
NM_031466.7(TRAPPC9):c.882T>C (p.His294=) rs61736350

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