Fig. 2 | Genetics in Medicine

Fig. 2

From: ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs

Fig. 2

Clinical validity results. a The clinical validity of 164 gene–disease pairs: Definitive = 82, Strong = 12, Moderate = 25, Limited = 32, Disputed = 10, Refuted = 3. b Syndromic (N = 59) and nonsyndromic (N = 105) breakdown of 164 gene–disease pairs. c Curations split by inheritance pattern: autosomal recessive (AR) = 96, autosomal dominant (AD) = 59, X-linked = 7, mitochondrial = 2.

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