Comments (2)
Added a new field and method Map<ClinSig, Integer> getConflictingInterpretationCounts()
to the ClinVarData
class and underlying protobuf representation in the new ClinVar MVStore (see #501). This allows display of the conflicting interpretation counts in the HTML e.g.
Previously:
MISSENSE_VARIANT SNV 13-110855918-C-G [0/1] rs150182714
Exomiser ACMG: UNCERTAIN_SIGNIFICANCE [PP3]
ClinVar: CONFLICTING_PATHOGENICITY_INTERPRETATIONS (criteria provided, conflicting interpretations)
Updated:
MISSENSE_VARIANT SNV 13-110855918-C-G [0/1] rs150182714
Exomiser ACMG: UNCERTAIN_SIGNIFICANCE [PP3]
ClinVar: CONFLICTING_PATHOGENICITY_INTERPRETATIONS (criteria provided, conflicting interpretations) (VUS:1, LB:3)
from exomiser.
You're in luck - I'm working on updating some of the ClinVar stuff right now. Also, as luck would have it the ClinVar VCF file has the following INFO
field
##INFO=<ID=CLNSIGCONF,Number=.,Type=String,Description="Conflicting clinical significance for this single variant; multiple values are separated by a vertical bar">
which appears when CLNSIG/CLNREVSTAT list conflicting interpretations e.g. (trimming out unwanted fields)
1 930200 1043045 G A . . CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Uncertain_significance(1)|Likely_benign(1);
1 930201 2012623 C T . . CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;
1 930203 972363 C T . . CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance
So, yes. This is a good idea and not so hard to achieve. I'd originally though this would require collating all this from the XML dump which would have led to a more negative response!
from exomiser.
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from exomiser.