Submit a Clinical Case — Contribute to the ACMG-Academy Platform

Submit a clinical case

Submit a case

Submit a clinical case to enrich the platform. For a series of cases, send them separately and we will group them into a series accessible to your students with a specific URL or QR code.

Contact information

Submitter name *

Contact email *

Clinical context

Patient age *

Sex *

Phenotype and clinical presentation *

Family history *

Variant and Gene

Gene *

Transcript *

Inheritance mode *

cDNA *

Protein *

Type *

Zygosity *

Inheritance *

Second variant (optional)

For compound heterozygous cases on the same gene

This case has a second variant (compound heterozygous)

Frequency and Databases

Comment

Summary of relevant information (gnomAD frequency, in silico prediction scores...)

ACMG Classification

Expected criteria *

Expected classification *

Expected NGSDiag V2 Classification (optional — if different from V1)

Should this variant be reported to the patient? *

Useful especially for incidental findings or VUS in a particular context

Yes No

Criteria justification *

ABC Classification — ESHG Recommendation (Houge et al.) (optional)

Two-dimensional classification: select Grade A (functional data) and Grade B (clinical concordance) to obtain the resulting class.

Grade A — Functional data

Grade B — Clinical concordance

Additional information

Comment (optional)

Images (optional)

Pedigree, BAM capture, etc.

PNG, JPG (max 5MB each) - Multiple files allowed