Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002146153 | SCV002452523 | likely benign | not provided | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV002146153 | SCV004222213 | uncertain significance | not provided | 2024-06-20 | criteria provided, single submitter | clinical testing | The NTHL1 c.549+10G>A variant has not been reported in individuals with NTHL1-related conditions in the published literature. It also has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect NTHL1 mRNA splicing. Based on the available information, we are unable to determine the clinical significance of this variant. |