{ "jsonMessageVersion" : "AV1", "statusPublishFlag" : "Publish", "type" : "actionability", "affiliations" : [ { "id" : "Adult AWG", "name" : "Adult Actionability Working Group" } ], "iri" : "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC061", "title" : "Hereditary Leiomyomatosis and Renal Cell Cancer - FH", "curationVersion" : "1.2.2", "statusFlag" : "Released - Under Revision", "dateISO8601" : "2022-02-09T00:00:00+00:00", "releaseNotes" : "Internal system migration associated with MONDO name addition.", "surveyDetails" : "https://actionability.clinicalgenome.org/ac/ui/stg1RuleOutRpt?doc=AC061", "earlyRuleOutStatus" : "Complete", "scoreDetails" : "https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC061", "genes" : [ { "symbol" : "FH", "ontology" : "HGNC", "curie" : "HGNC:3700", "uri" : "HGNC3700" } ], "preferred_conditions" : [ { "ontology" : "MONDO", "curie" : "MONDO:0007888", "uri" : "MONDO0007888", "iri" : "http://purl.obolibrary.org/obo/MONDO_0007888", "gene" : "HGNC:3700" } ], "conditions" : [ { "ontology" : "MONDO", "curie" : "MONDO:0007888", "uri" : "MONDO0007888", "iri" : "http://purl.obolibrary.org/obo/MONDO_0007888", "gene" : "HGNC:3700" } ], "scores" : [ { "Outcome" : "Renal cancer", "ScoringGroups" : [ { "ScoringGroup" : ["HGNC:3700"], "Severity" : "2", "Likelihood" : "2C", "Interventions" : [ { "Intervention" : "Surveillance", "ScoringGroups" : [ { "ScoringGroup" : ["HGNC:3700"], "Effectiveness" : "2C", "Nature of Intervention" : "3", "Total" : "9CC" } ] } ] } ] }, { "Outcome" : "Advanced uterine pathology", "ScoringGroups" : [ { "ScoringGroup" : ["HGNC:3700"], "Severity" : "1", "Likelihood" : "3C", "Interventions" : [ { "Intervention" : "Annual GYN exam", "ScoringGroups" : [ { "ScoringGroup" : ["HGNC:3700"], "Effectiveness" : "2C", "Nature of Intervention" : "3", "Total" : "9CC" } ] } ] } ] } ], "assertions" : [ { "ontology" : "MONDO", "curie" : "MONDO:0007888", "uri" : "MONDO0007888", "iri" : "http://purl.obolibrary.org/obo/MONDO_0007888", "gene" : "HGNC:3700", "assertion" : "Assertion Pending" } ], "searchDates" : [ "2015-09-15T00:00:00Z" ] }