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Variant filtering and outcome in dried blood spots. (A) Filtering steps used in the (likely) pathogenic ((L)P) filtering strategy. (B) (L)P filtering strategy and the additional VUS strategy. (C) Number of TP, TN, and FN results. AD: autosomal dominant; AR: autosomal recessive; CLG: clinical laboratory geneticist; MAF: minor allele frequency; VAF: variant allele frequency; VUS: variant of unknown significance; XL: X-linked recessive.
