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Beginning August 1, 2023, the University of Utah Department of Pathology and ARUP Laboratories will no longer host this mutation database. Our clinical variant data will be consolidated and shared with free publicly accessible databases such as ClinVar. For any questions or concerns related to the removal of this database from our website, please click here and one of our molecular genetics medical directors will review your submission and get back to you.

SMAD4 Database Submission Form

Please fill out this form to submit new SMAD4 sequence variations to the database. This form should also be used to update clinical information or phenotype of variants already in the database. Submissions will be reviewed before they are added to the database and the submitter may be contacted for clarification or additional information. For this reason, valid contact information is required to make a submission. If you have any questions or concerns about the submission process, please contact Whitney Wooderchak-Donahue, PhD (whitney.wooderchak@aruplab.com) at ARUP Laboratories. If you have multiple mutations to submit, you can also contact us about an efficient transfer of this data into the database.

Required Fields *

Note: Please describe your variant according to current recommendations by the HGVS, especially for mutations causing truncation or changing the normal protein reading frame. Additional information can be added into the comments section.

Sequence Change
Location * Example: Exon 15
Mutation Type *
Classification * If the Classification is unknown, please put N/A
Nucleotide Change * Example: c.1932C>T
Protein Change * Example: p. Ile644Ile
Clinical Significance * If the Clincal Significance is unknown, please put N/A
Publication Information
Contributors
Any Additional Comments and Information

Contact Information
Contact Name *
Institution Name *
Address
City
State
Country
Postal Code
Phone *
   Display my email address with my contact information for this submission