ClinVar Variant ACMG Evidence Prediction Results
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This CSV file contains predictions for three types of evidence (functional, population, and computational) for all ClinVar variant submissions. The output CSV contains the following columns:Identifier ColumnsSCV: Submission accession number from ClinVar (format: SCV000000000)VCV: Variation accession number from ClinVar (format: VCV000000000)RCV: Record accession number from ClinVar (format: RCV000000000)VariationID: Numerical identifier for the genetic variationGenomic CoordinatesGRCh38_Chr: Chromosome numberGRCh38_Start: Start position on chromosome (GRCh38/hg38 assembly)GRCh38_Stop: Stop position on chromosome (GRCh38/hg38 assembly)GRCh38_ReferenceAllele: Reference allele sequenceGRCh38_AlternateAllele: Alternate allele sequenceProtein-Level Informationaapos: Amino acid position in the proteinaaref: Reference amino acid (single letter code)aaalt: Alternate amino acid (single letter code)gene: Gene symbol (e.g., BRCA1, TP53)Original ClassificationSubmissionClassification: Original classification provided by the submitter mainly includes pathogenic, likely pathogenic, uncertain significance, benign, likely benign, but also includes other valuesInput TextComment: The textual comment/description provided with the variant submission that was used as input to the modelModel Predictionshas_evidence: does the text summary contain a specific type of evidence or not (TRUE or FALSE)evidence_confidence: model prediction confidence (0.0 to 1.0)predicted_evidence: if the text summary contains a specific type of evidence, model prediction of whether it is pathogenic or benign (P or B for population or computational evidence, PS3 or BS3 for functional evidence)B_Score: model prediction confidence for being a benign type of evidence (0.0 to 1.0)P_Score: model prediction confidence for being a pathogenic type of evidence (0.0 to 1.0)Notes on Probability Scores Probability scores (B_Score, P_Score) sum to 1.0 for each row. Higher probability indicates greater model confidence for that classification. The predicted_evidence corresponds to the classification with the highest probability score.Model Type: Fine-tuned transformer model for sequence classificationInput: Textual comments from variant submissionsTraining Data: ClinVar variant submissions with known classifications and mentions of ACMG evidence guideline
创建时间:
2025-06-11



