| Type | Standard / Implementation Specification | Standards Process Maturity | Implementation Maturity | Adoption Level | Federally required | Cost | Test Tool Availability |
|---|---|---|---|---|---|---|---|
|
Standard for observations
|
Final
|
Production
|
No
|
Free
|
No
|
||
|
Standard for observations
|
Final
|
Production
|
No
|
Free
|
No
|
||
|
Standard for observations
|
Final
|
Production
|
No
|
Free
|
No
|
||
|
Standard for observations
|
Final
|
Production
|
No
|
Free
|
No
|
||
|
Standard for observations
|
Final
|
Production
|
No
|
Free
|
No
|
| Limitations, Dependencies, and Preconditions for Consideration |
Applicable Value Set(s) and Starter Set(s)
|
|---|---|
Implementation information for Personal Genomic History exchange can be found in Content/Structure |
For genomic data: Specified data elements of genomics include the following: |
Comment
Submitted by david_rocha on
Variant type
The below 5 are part of Variant Type:
Pathogenic
Likely Pathogenic
Variant of Uncertain Signficance (VUS)
Likely Benign
Benign
and of course with Variants:
Test Interpretation
Clnically Significant Copy Number Variations (Clinically Significant CNVs)







Submitted by david_rocha on
GA4GH Categorical Variant Representation (Cat-VRS)
GA4GH has been working on the Categorical Variant Representation Implementation Guide (Cat-VRS).
cat-vrs.ga4gh.org
There are Broad categories of genomic variants
(Suspected) deleterious BRCA 1/2 variants
(Suspected) deleterious gBRCA 1/2 variants
AKT1 variants
ALK fusions
ALK variants
BRAF fusions
BRAF rearrangements
BRAF V600
Deleterious BRCA 1/2 variants
EGFR exon 19 deletion variants
EGFR exon 20 insertion variants
EGFR variants
EZH2 variants
FGFR1 rearrangements
FGFR2 rearrangements
FLT3 variants
FRFR2 : :v
HER2 (ERBB2) variants
HRR gene variants
IDH1 variants
IDH2 variants
KMT2A translocations
KRAS variants
MET exon 14 skipping variants
Non-resistant EGFR variants
NRG1 fusions
NTRK fusions
PDGFRA exon 18 variants
PDGFRA/B rearrangements
PIK3CA variants
PTEN variants
RET fusions
RET variants
ROS1 fusions
Susceptible FGFR3 variants
Susceptible IDH1 variants
TSC 1/2 variants
Types of constraints :
Adjacency constraint
Copy change constraint
Copy count constraint
Defining allele constraint
Defining location constraint
Feature context constraint
Function constraint
Types of recipes:
Canonical allele recipe
Categorical CNV recipe
Function variant recipe
Gene fusion recipe
Protein sequence consequence recipe