ClinVar Miner

Variants in gene RSPH4A with conflicting interpretations

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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 per condition Variants with at least 2 submissions on the same condition 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 conflict
249 47 0 11 6 0 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 likely pathogenic uncertain significance likely benign benign
pathogenic 0 2 1 0 0
likely pathogenic 2 0 0 0 0
uncertain significance 1 0 0 6 1
likely benign 0 0 6 0 9
benign 0 0 1 9 0

All variants with conflicting interpretations #

Total variants: 17
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001010892.3(RSPH4A):c.731G>A (p.Arg244His) rs41289942 0.01592
NM_001010892.3(RSPH4A):c.1798+11G>A rs41290844 0.00873
NM_001010892.3(RSPH4A):c.1731A>G (p.Lys577=) rs73765819 0.00679
NM_001010892.3(RSPH4A):c.675G>T (p.Ser225=) rs79327004 0.00290
NM_001010892.3(RSPH4A):c.2101G>C (p.Glu701Gln) rs140660854 0.00194
NM_001010892.3(RSPH4A):c.1080G>C (p.Leu360Phe) rs111375012 0.00144
NM_001010892.3(RSPH4A):c.1974A>G (p.Thr658=) rs142977481 0.00126
NM_001010892.3(RSPH4A):c.1990C>T (p.Pro664Ser) rs146142715 0.00122
NM_001010892.3(RSPH4A):c.307G>T (p.Asp103Tyr) rs139745647 0.00066
NM_001010892.3(RSPH4A):c.930C>T (p.Asn310=) rs180881714 0.00021
NM_001010892.3(RSPH4A):c.1708G>C (p.Glu570Gln) rs147003118 0.00015
NM_001010892.3(RSPH4A):c.1490dup (p.Ser498fs) rs762267064 0.00003
NM_001010892.3(RSPH4A):c.2135A>G (p.Glu712Gly) rs765412618 0.00002
NM_001010892.3(RSPH4A):c.*8A>G rs575857124 0.00001
NM_001010892.3(RSPH4A):c.1536G>A (p.Glu512=) rs533664718 0.00001
NM_001010892.3(RSPH4A):c.430C>T (p.Gln144Ter) rs756868889 0.00001
NM_001010892.3(RSPH4A):c.1690del (p.Gln564fs) rs1775758975

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