Submit a Variant for Analysis

Automated ACMG/VCEP evidence evaluation for ENG and ACVRL1 variants. You'll receive a Word report by email within ~20 minutes.

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).

Delivery

Your Name Required

Email Address Report will be sent here