ClinVar Miner

Variants in gene RTTN with conflicting interpretations

Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
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
101 12 0 28 8 0 1 37

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.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 4 1 0 0
likely pathogenic 4 0 0 0 0
uncertain significance 1 0 0 8 0
likely benign 0 0 8 0 24
benign 0 0 0 24 0

All variants with conflicting interpretations #

Total variants: 37
Download table as spreadsheet
HGVS dbSNP
NM_173630.3(RTTN):c.1008-4G>T rs151203272
NM_173630.3(RTTN):c.1221A>G (p.Glu407=) rs112327299
NM_173630.3(RTTN):c.1665C>A (p.Asn555Lys) rs34353615
NM_173630.3(RTTN):c.1732G>C (p.Ala578Pro) rs775277800
NM_173630.3(RTTN):c.1842A>G (p.Glu614=) rs140245773
NM_173630.3(RTTN):c.1921A>G (p.Ile641Val) rs117502718
NM_173630.3(RTTN):c.2055+7C>T rs117843366
NM_173630.3(RTTN):c.227C>T (p.Pro76Leu) rs114765225
NM_173630.3(RTTN):c.2355T>C (p.Ser785=) rs200600259
NM_173630.3(RTTN):c.2568T>A (p.Ala856=) rs370998068
NM_173630.3(RTTN):c.282G>T (p.Arg94=) rs199908033
NM_173630.3(RTTN):c.2856A>G (p.Leu952=) rs35139926
NM_173630.3(RTTN):c.2885+8A>G rs864321620
NM_173630.3(RTTN):c.2886-9A>G rs75225724
NM_173630.3(RTTN):c.3048G>A (p.Pro1016=) rs149233888
NM_173630.3(RTTN):c.3190A>C (p.Lys1064Gln) rs864321621
NM_173630.3(RTTN):c.32-3C>T rs75577820
NM_173630.3(RTTN):c.376T>G (p.Ser126Ala) rs3911730
NM_173630.3(RTTN):c.4193C>T (p.Thr1398Met) rs62089120
NM_173630.3(RTTN):c.4748-5A>G rs28495061
NM_173630.3(RTTN):c.4850T>C (p.Met1617Thr) rs35409908
NM_173630.3(RTTN):c.4889G>C (p.Arg1630Thr) rs182595458
NM_173630.3(RTTN):c.4940+7G>A rs17082039
NM_173630.3(RTTN):c.4992G>C (p.Leu1664=) rs34041767
NM_173630.3(RTTN):c.5060C>G (p.Ser1687Cys) rs34717557
NM_173630.3(RTTN):c.5186-4A>G rs28599773
NM_173630.3(RTTN):c.5282T>C (p.Phe1761Ser) rs4891392
NM_173630.3(RTTN):c.5750A>G (p.Asp1917Gly) rs780270096
NM_173630.3(RTTN):c.5883G>A (p.Leu1961=) rs35313369
NM_173630.3(RTTN):c.5991T>C (p.Pro1997=) rs34749812
NM_173630.3(RTTN):c.6015C>T (p.Ala2005=) rs117183725
NM_173630.3(RTTN):c.6038G>T (p.Cys2013Phe) rs145976466
NM_173630.3(RTTN):c.6144A>G (p.Val2048=) rs2304378
NM_173630.3(RTTN):c.6445G>A (p.Ala2149Thr) rs34989098
NM_173630.3(RTTN):c.6636T>C (p.Tyr2212=) rs35558429
NM_173630.3(RTTN):c.734A>G (p.Lys245Arg) rs17082206
NM_173630.3(RTTN):c.80G>A (p.Cys27Tyr) rs201884120

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