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Change content of demo json submission to include a demo submission f…
…rom ClinVar
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Chiara Rasi
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Sep 19, 2024
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52 changes: 52 additions & 0 deletions
52
preClinVar/demo/sample_clinical_significance_hgvs_submission.json
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{ | ||
"clinvarSubmissionReleaseStatus": "hold until published", | ||
"assertionCriteria":{ | ||
"db": "PubMed", | ||
"id": "25741868" | ||
}, | ||
"clinvarSubmission":[{ | ||
"recordStatus": "novel", | ||
"clinicalSignificance": { | ||
"clinicalSignificanceDescription": "Pathogenic", | ||
"dateLastEvaluated": "2018-04-28", | ||
"comment": "This comment explains the rationale for classifying this PDE6B variant as pathogenic for Retinitis pigmentosa-40.", | ||
"citation": [{ | ||
"db": "PubMed", | ||
"id": "PMID:11295882" | ||
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}, | ||
{ | ||
"db": "PubMed", | ||
"id": "PMID:1363786" | ||
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}, | ||
{ | ||
"url": "https://yourdatabaselink.org" | ||
}], | ||
"modeOfInheritance":"Autosomal dominant inheritance" | ||
}, | ||
"observedIn":[ { | ||
"alleleOrigin": "germline", | ||
"affectedStatus": "yes", | ||
"collectionMethod": "clinical testing", | ||
"numberOfIndividuals": 1 | ||
}], | ||
"variantSet": { | ||
"variant": [{ | ||
"hgvs":"NM_000283.3:c.3645A>T", | ||
"gene":[ { | ||
"id":2 | ||
}] | ||
}]}, | ||
"conditionSet": { | ||
"condition": [{ | ||
"db": "OMIM", | ||
"id": "613801" | ||
}] | ||
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} | ||
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} | ||
] | ||
} |
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