ClinVar Miner

Variants in gene combination LOC100507346, PTCH1 with conflicting interpretations

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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
168 25 1 11 18 0 2 26

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
pathogenic 0 2 1 2
uncertain significance 2 1 14 7
likely benign 1 14 0 11
benign 2 7 11 0

All variants with conflicting interpretations #

Total variants: 26
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NM_001083602.2(PTCH1):c.1610G>A (p.Arg537His) rs199523893
NM_001083602.2(PTCH1):c.1611C>T (p.Arg537=) rs145690756
NM_001083602.2(PTCH1):c.1649+14C>T rs202007968
NM_001083602.2(PTCH1):c.1656C>T (p.Cys552=) rs62637628
NM_001083602.2(PTCH1):c.1715G>A (p.Arg572His) rs145766839
NM_001083602.2(PTCH1):c.1791G>C (p.Gln597His) rs753002023
NM_001083602.2(PTCH1):c.1806C>T (p.Tyr602=) rs151216961
NM_001083602.2(PTCH1):c.1846C>T (p.Arg616Cys) rs570441437
NM_001083602.2(PTCH1):c.1852G>A (p.Glu618Lys) rs62637629
NM_001083602.2(PTCH1):c.1907C>G (p.Pro636Arg) rs368362152
NM_001083602.2(PTCH1):c.1975C>T (p.Pro659Ser) rs149258400
NM_001083602.2(PTCH1):c.1978C>T (p.Pro660Ser) rs758811078
NM_001083602.2(PTCH1):c.1979C>G (p.Pro660Arg) rs587780697
NM_001083602.2(PTCH1):c.1985C>T (p.Thr662Met) rs115556836
NM_001083602.2(PTCH1):c.1986G>A (p.Thr662=) rs201103723
NM_001083602.2(PTCH1):c.2001A>G (p.Ser667=) rs2227970
NM_001083602.2(PTCH1):c.2024C>T (p.Ala675Val) rs2227971
NM_001083602.2(PTCH1):c.2072T>C (p.Phe691Ser) rs547954117
NM_001083602.2(PTCH1):c.2106C>T (p.Thr702=) rs1805156
NM_001083602.2(PTCH1):c.2239C>G (p.Pro747Ala) rs45579032
NM_001083602.2(PTCH1):c.2262C>T (p.Tyr754=) rs766227557
NM_001083602.2(PTCH1):c.2281A>G (p.Ser761Gly) rs199476092
NM_001083602.2(PTCH1):c.2286C>T (p.Asn762=) rs143305989
NM_001083602.2(PTCH1):c.2287G>A (p.Val763Met) rs201125580
NM_001083602.2(PTCH1):c.2362+7C>T rs75576651
NM_001083602.2(PTCH1):c.2362+8G>A rs201541845

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