Submit a variant

Please contact the database team if you would like to suggest a new ADAMTS13 variant, update an existing record, or provide additional supporting clinical or publication details.

How to submit information

Email submission

Please send proposed updates or new variant information to:

Please include as much supporting information as possible so the database team can review the submission accurately.

Useful details to include

  • Variant name in HGVS format, for example c.83G>A or p.Trp28Ter.
  • Genomic coordinate and genome build, if known.
  • rsID, ClinVar ID or other database identifiers, if available.
  • Publication details, including PMID or DOI.
  • Whether the variant is homozygous, compound heterozygous or heterozygous.
  • Any relevant phenotype, country, ADAMTS13 activity or clinical details that can be shared appropriately.

Before submitting

Please check whether the variant is already present in the database using the variant list or advanced search.

Browse variants Advanced search

Important note

Please do not submit identifiable patient information. This database is intended for scientific research use only. Clinical interpretation should be undertaken by appropriately qualified professionals.

Submission review

Submitted variants and updates will be reviewed before inclusion. Inclusion may depend on the availability of sufficient supporting evidence, nomenclature clarity and compatibility with the database structure.