Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 4.0.0-ballot built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions
| variants | |
| variantItem | NM_001354609.2:c.1799T>A |
| presence | false |
| variants | |
| variantItem | NM_007294.4:c.5559C>A |
| presence | false |
| variants | |
| variantItem | NM_001354609.2:c.1802= |
| presence | false |
| variants | |
| variantItem | NC_000001.10:g.12225351T>A |
| presence | false |
| variants | |
| variantItem | NM_000038.6:c.55G>T |
| presence | true |
| variant | Variant |