ClinVar Miner

Submissions for variant NM_020975.6(RET):c.625+9C>T

gnomAD frequency: 0.00001  dbSNP: rs201453349
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000861452 SCV001001767 likely benign Multiple endocrine neoplasia, type 2 2023-11-02 criteria provided, single submitter clinical testing
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV000861452 SCV001737431 likely benign Multiple endocrine neoplasia, type 2 2021-08-19 criteria provided, single submitter clinical testing The RET c.625+9C>T intronic change results in a C to T substitution at the +9 position of intron 3. This variant is not predicted to affect the native splice donor site (BP4), and internal RNA data demonstrates normal splicing (BS3_supporting). This variant is absent in gnomAD v2.1.1 (PM2_Supporting; https://gnomad.broadinstitute.org/). To our knowledge, this variant has not been reported in the literature in individuals with MEN2. In summary, this variant meets criteria to be classified as likely benign based on the ACMG/AMP criteria: PM2_supporting, BS3_supporting, BP4.

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