Total submissions: 2
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. |
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. |