Submit a Variant for Analysis

Automated ACMG/VCEP evidence evaluation for HHT (ENG, ACVRL1), VLCAD deficiency (ACADVL), and brain-malformation (PIK3CA, AKT3, MTOR, PIK3R2) variants. You'll receive a Word report by email — typically 20–60 minutes (well-characterized variants with many papers can take longer).

Variant Details

Gene Required

Mutation Name Required, HGVS or VCF format

Accepted: HGVS coding (c.xxx) or VCF (chr<N>-<pos>-<ref>-<alt>). VCF inputs are auto-converted to HGVS for the selected gene.

Additional Information Optional

Supporting Files

File Upload Optional · Excel / CSV / Word

Click or drag files here

.xlsx · .xls · .csv · .doc · .docx

Report Options

Show not-met evidence codes Include a Criteria Not Met section in the Word report that lists ACMG/VCEP evidence codes that were evaluated but did not apply to this variant.

Skip ClinVar evidence By default the pipeline scrapes ClinVar submitter comments and functional-assay data for this variant and feeds them into the classifier. Check this to disable ClinVar scraping and classify using only your uploaded files and notes (if any).

Use ClinGen-standardized format Render the Word report using the ClinGen Variant Curation Expert Panel standardized text style (v3.0, Dec 2025) — fixed evidence-code sentence templates, structured final summary, inline PMID / ClinVar citations. Suitable for ClinGen biocuration workflows.

Delivery

Your Name Required

Email Address Report will be sent here