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. 2021 Oct 29;14:427–444. doi: 10.2147/TACG.S288274

Figure 5.

Figure 5

A suggested testing strategy for CCS that addresses germline and mosaic presentations. *RNA from blood leucocytes require special collection tubes; **in principle such a patient may still yet harbour a germline pathogenic variant, and it remains the clinician’s decision if she would prefer to pursue GERMLINE testing first.

Abbreviations: PV, pathogenic variant; SNV, single nucleotide variant.