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FDP Data Capture Entry

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miacocca edited this page Sep 13, 2019 · 36 revisions

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Entering Variant and Data Source Information

#Example

##Variant ID

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

Note: CaIDs may not be available for certain types of variants such as CNVs; in such cases the ClinVar ID (only) may be used

###HGVS Notation *Required: "c." or "g." ("p." is optional) *Required: Corresponding RefSeq

Comments: The ClinVar ID or CaID are used as the primary variant identifiers; they are required for the data to be presented within the VCI and are necessary for data storage and data querying purposes.

Gene and HGVS notation details are not used by the VCI but will be stored in the FDRepo database and are helpful for curators to more easily identify/recognize their data entries.

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