MutSpliceDB: a database of splice sites variants effects on splicing (NIH)

General information

MutSpliceDB: a database of splice sites variants effects on splicing
NIH
9609 Medical Center Drive
Rockville
Maryland
United States - 20850
https://brb.nci.nih.gov/splicing
Organization ID: 506814

Assertion criteria

Level: Assertion criteria not provided

    Summary of submissions to ClinVar

    Total submissions: 134

    Gene

    GeneSubmissionsLast Updated
    APC1Mar 7, 2019
    ARID1A1Nov 7, 2019
    ARID1B1Nov 7, 2019
    ATM1Nov 7, 2019
    BRCA13Aug 20, 2021
    CDKN1A1Aug 9, 2019
    CDKN1B2Aug 6, 2021
    CDKN2A10Sep 10, 2021
    CDKN2C1Nov 7, 2019
    FANCA1Nov 7, 2019
    LOC1073033402Jul 23, 2021
    MET5Sep 23, 2020
    MSH23Jul 16, 2021
    NF15Aug 6, 2021
    NF21Nov 7, 2019
    PALB21Nov 7, 2019
    PMS21Nov 7, 2019
    POLD11Nov 7, 2019
    PTCH11Nov 7, 2019
    PTEN11Sep 10, 2021
    RB15Sep 17, 2021
    SMARCA42Nov 7, 2019
    SMARCB12Nov 7, 2019
    SMARCC11Nov 7, 2019
    TP5362Sep 17, 2021
    TSC12Nov 7, 2019
    TSC26Aug 27, 2021
    VHL3Jul 23, 2021

    Condition

    NameSubmissionsLast Updated
    not provided134Sep 17, 2021
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