Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002882313 | SCV003243497 | likely benign | not provided | 2022-11-19 | criteria provided, single submitter | clinical testing | |
St. |
RCV004786764 | SCV005402169 | uncertain significance | Noonan syndrome 10 | 2024-01-08 | criteria provided, single submitter | clinical testing | The LZTR1 c.2220-14T>C intronic change results in a T to C substitution at the -14 position of intron 18 of the LZTR1 gene. Algorithms that predict the impact of sequence changes on splicing indicate that this variant may impact splicing, but to our knowledge these predictions have not been confirmed by RNA studies. This variant has a maximum frequency of 0.016% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). To our knowledge, this variant has not been reported in individuals with Noonan syndrome or schwannomatosis. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance. |