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. 2018 Jan 4;20(3):351–359. doi: 10.1038/gim.2017.218

Figure 3.

Figure 3

Impact of data sharing on proband counts. Increased proband counts obtained from internal lab data changed the variant classification for eight variants. Hashed lines correspond to the thresholds for supporting (≥2, PS4_Supporting), moderate (≥6, PS4_Moderate), and strong (≥15, PS4). Publicly available data was collected from PubMed, Google, Human Gene Mutation Database Professional, ClinVar, and relevant locus-specific variant databases. Internal laboratory data was collected from the Partners HealthCare Laboratory for Molecular Medicine, Invitae, the Sarcomeric Human Cardiomyopathy Registry (https://theshareregistry.org/), the Australian Genetic Heart Disease Registry (http://www.heartregistry.org.au/), the National Institute for Health Research Cardiovascular Biomedical Research Unit at Royal Brompton Hospital and Imperial College London, and the National Heart Centre Singapore.