November 7, 2025. Cancer Splicing Mutation Database available on ClinVar

The ValidSpliceMut database has been ported to ClinVar at the NIH’s National Center for Biotechnology Information (NCBI) based on their recently released functional evidence specification. Nearly all validated variants have been converted to HGVS mRNA notation and, where possible, use MANE database accession numbers for representing gene transcripts.

For example, this variant in ValidspliceMut (link) is now indicated as functional data entry as  abnormal due to retained intron sequences in ClinVar (link, see bottom of entry).

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