10/30/2026, 1:56:21 PM · PharmCAT 3.4.0 · Research record, not medical advice
- read 1 gene calls12.6s
- PharmCATstandardised 1 genes10.6s
- Rules0 coverage gaps
Calls each call quoted from the source, then standardised by PharmCAT
Sample Molecular Diagnostics, Bengaluru - NOT A REAL LAB · 13 Oct 2026 · open original photo
| Gene | As printed | Standardised | Phenotype term |
|---|---|---|---|
| CYP2C19 | “CYP2C19 rs4244285 G/A Heterozygous; CYP2C19 rs4986893 G/G Wild type; CYP2C19 rs12248560 C/C Wild type. Genotypes are reported per rsID on the forward strand. Star-allele assignment is left to the treating clinician.” | *1/*2 | Intermediate Metabolizer |
Method as printed: Genotypes are reported per rsID on the forward strand. Star-allele assignment is left to the treating clinician. Method: targeted genotyping by real-time PCR. Only the listed variants are assayed; variants outside this panel cannot be excluded.
Coveragedeterministic rules · which India-relevant variants this panel named
Common no-function allele in South Asians
Increased-function allele
A variant the panel did not name is left out of cohort statistics for that variant, rather than counted as absent. Reader notes: Only the listed variants are assayed; variants outside this panel cannot be excluded. Star-allele assignment was left to the treating clinician; *1/*2 inferred from rsID mapping: rs4244285 het -> *2, rs4986893 wild type, rs12248560 wild type. Synthetic document generated for software benchmarking. Not a real patient or laboratory.
Exportde-identified · the same record in three formats
Curator review
A curator checks each call against the source document before the record counts in a cohort, and Muse Spark web search finds published Indian frequency data for each variant. Both are written to the audit log. Reviewing is the one action that needs a curator code, because it is a claim that a person checked the page.
Sign in as a curator