Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000867142 | SCV001008337 | likely benign | Fanconi anemia | 2023-12-19 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003478536 | SCV004218711 | uncertain significance | not provided | 2023-05-19 | criteria provided, single submitter | clinical testing | To the best of our knowledge, the variant has not been reported 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 FANCM mRNA splicing . Based on the available information, we are unable to determine the clinical significance of this variant. |