ClinVar Miner

Variants in gene RSPH4A 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
59 9 3 7 14 0 1 23

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 3 1 0 0
uncertain significance 1 0 8 8
likely benign 0 8 0 7
benign 0 8 7 0

All variants with conflicting interpretations #

Total variants: 23
Download table as spreadsheet
NM_001010892.3(RSPH4A):c.*8A>G rs575857124
NM_001010892.3(RSPH4A):c.-16_-12delinsCACGCCCCTTTCATCCA rs727504884
NM_001010892.3(RSPH4A):c.144G>A (p.Gly48=) rs112350099
NM_001010892.3(RSPH4A):c.1468C>T (p.Arg490Ter) rs118204043
NM_001010892.3(RSPH4A):c.1489G>A (p.Val497Ile) rs117169123
NM_001010892.3(RSPH4A):c.1662+15C>T rs183372450
NM_001010892.3(RSPH4A):c.1667G>A (p.Arg556His) rs6927567
NM_001010892.3(RSPH4A):c.1708G>C (p.Glu570Gln) rs147003118
NM_001010892.3(RSPH4A):c.1731A>G (p.Lys577=) rs73765819
NM_001010892.3(RSPH4A):c.1879A>C (p.Asn627His) rs9488991
NM_001010892.3(RSPH4A):c.1917-4A>G rs201826366
NM_001010892.3(RSPH4A):c.1974A>G (p.Thr658=) rs142977481
NM_001010892.3(RSPH4A):c.1990C>T (p.Pro664Ser) rs146142715
NM_001010892.3(RSPH4A):c.2099C>T (p.Ala700Val) rs9488992
NM_001010892.3(RSPH4A):c.2101G>C (p.Glu701Gln) rs140660854
NM_001010892.3(RSPH4A):c.237A>G (p.Thr79=) rs145831200
NM_001010892.3(RSPH4A):c.325C>T (p.Gln109Ter) rs118204042
NM_001010892.3(RSPH4A):c.430C>T (p.Gln144Ter) rs756868889
NM_001010892.3(RSPH4A):c.446C>G (p.Thr149Ser) rs13213314
NM_001010892.3(RSPH4A):c.460C>T (p.Gln154Ter) rs118204041
NM_001010892.3(RSPH4A):c.675G>T (p.Ser225=) rs79327004
NM_001010892.3(RSPH4A):c.731G>A (p.Arg244His) rs41289942
NM_001010892.3(RSPH4A):c.930C>T (p.Asn310=) rs180881714

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