We present a patient with a clinical diagnosis of Joubert syndrome with COACH phenotype who carries two variants of uncertain significance (VUS). One VUS can be reclassified as "likely pathogenic" by adding clinical data. As genetic testing becomes more accessible, more VUS will require clinical correlation for accurate classification.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6230611 | PMC |
| http://dx.doi.org/10.1002/ccr3.1748 | DOI Listing |
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