ClinVar Miner

Variants in gene NHS 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 13 5 1 1 17

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 uncertain significance likely benign benign association
likely pathogenic 1 1 1 1 1
uncertain significance 0 0 3 3 0
likely benign 0 3 0 12 0
benign 0 3 12 0 0

All variants with conflicting interpretations #

Total variants: 17
Download table as spreadsheet
HGVS dbSNP
NM_198270.3(NHS):c.566-10dup rs5901624
NM_198270.4(NHS):c.1651C>T (p.Pro551Ser) rs150688899
NM_198270.4(NHS):c.1697T>C (p.Met566Thr) rs187739639
NM_198270.4(NHS):c.207_209GCC[3] (p.Pro73del) rs10590816
NM_198270.4(NHS):c.211C>T (p.Pro71Ser) rs398124605
NM_198270.4(NHS):c.2141G>A (p.Arg714His) rs193921046
NM_198270.4(NHS):c.2530G>A (p.Ala844Thr) rs149609550
NM_198270.4(NHS):c.310_345del (p.Pro104_Ala115del) rs797045741
NM_198270.4(NHS):c.3138T>C (p.Ser1046=) rs56908561
NM_198270.4(NHS):c.3141A>G (p.Leu1047=) rs56691712
NM_198270.4(NHS):c.3311C>T (p.Ser1104Leu) rs145005596
NM_198270.4(NHS):c.3866G>T (p.Gly1289Val) rs41304731
NM_198270.4(NHS):c.3955T>C (p.Phe1319Leu) rs3747295
NM_198270.4(NHS):c.3988G>A (p.Asp1330Asn) rs148418212
NM_198270.4(NHS):c.513C>T (p.Leu171=) rs398124610
NM_198270.4(NHS):c.828G>A (p.Glu276=) rs147497359
Single allele rs1556038952

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