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. Author manuscript; available in PMC: 2018 Apr 4.
Published in final edited form as: Genet Med. 2018 Jan 4;20(3):351–359. doi: 10.1038/gim.2017.218

Figure 3. Impact of data sharing on proband counts.

Figure 3

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). Publically available data was collected from PubMed, Google, HGMD Professional, ClinVar, and relevant locus-specific variant databases. Internal laboratory data was collected from the Partners HealthCare Laboratory for Molecular Medicine, Invitae, Inc, the Sarcomeric Human Cardiomyopathy Registry – SHaRe (https://theshareregistry.org/), the Australian Genetic Heart Disease Registry (http://www.heartregistry.org.au/), the NIHR Cardiovascular Biomedical Research Unit at Royal Brompton Hospital and Imperial College London, and the National Heart Centre Singapore.