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. 2021 Jun 1;29(9):1337–1347. doi: 10.1038/s41431-021-00852-7

Fig. 2. Results of reanalysis of undiagnosed RD cases to identify known disease-causing variants.

Fig. 2

A Filtration, prioritisation and interpretation workflow (numbers refer to index cases). B Number of variants per case submitted to DITFs for prioritisation and resulting number of variants submitted for interpretation. C Variants interpretation results from prioritised cases per type of disorder (numbers refer to variants). D Number of causative variants identified according to the year the corresponding gene (grey) or variant (yellow) was first described in the literature as disease-causing (according to OMIM) or pathogenic (according to ClinVar).