Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
St. |
RCV000761187 | SCV000891103 | uncertain significance | Lynch syndrome | 2020-10-14 | criteria provided, single submitter | clinical testing | The MSH2 c.1511-13_1511-9delinsGT variant is absent in gnomAD v2.1.1 (PM2_Supporting; http://gnomad.broadinstitute.org). SpliceAI and varSEAK predict a harmless effect on the gene or gene product with no impact on splicing (BP4), however these predictions have not been confirmed by functional studies and their clinical significance is uncertain. To our knowledge, this variant has not been reported in individuals with Lynch syndrome or constitutional mismatch repair deficiency. In summary, this variant meets criteria to be classified as of uncertain significance based on the ACMG/AMP criteria: PM2_Supporting, BP4. |
Gene |
RCV001692284 | SCV001909173 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing |