FDP Data Capture Entry

Coming soon...

Entering Variant and Data Source Information

Example

Variant ID

ClinGen Canonical Allele ID (CaID) / ClinVar Variation ID (ClinVar ID)

• Required: either or (CaID preferable)
• ClinGen CaID's can be found here
• ClinVar Variation IDs are available only for variants that have been submitted to ClinVar and can be found here

Note: CaIDs may not be available for certain types of variants such as CNVs; in these cases, the ClinVar ID can be used

Canonical Allele HGVS Notation

• Required: RefSeq
• Required: "c." or "g." ("p." is optional)

Comments: The Ca/ClinVar IDs are used as the primary variant identifiers within the FDRepo database; at least one is required for the data to be uploaded to the VCI. These identifiers may also be useful for downstream data querying purposes. Gene and HGVS notation details entered are not needed by the VCI but will be stored in the FDRepo database and are helpful for curators to recognize and track their data entries within the spreadsheet.