6 Sep 2024
A scoping review highlights the challenges in variant reclassification and recontact in clinical genetics, emphasizing the need for standardized processes and routine reinterpretation to improve patient care bit.ly/4egJTI3 #GIMO #VariantReclassification #GeneticTesting
ALT Screenshot of Figure 2: Outcomes of variant reclassification across studies that used (A) active and (B) passive methods of reinterpretation to reclassify variants.
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21 Feb 2023
Ambry will be at ACMG 2023 March 14-18 in Salt Lake City, Utah. Don't miss our poster presentations during the conference. Visit hubs.ly/Q01CMfmr0 for more information. #ACMGMtg23 #RNA #genetictesting #variantreclassification #cancer
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16 Oct 2019
Join our poster presentations Wednesday at #ASHG2019. at 2 p.m. Prof. Peter Bauer is talking about #VariantReclassification at poster #1503 & at 3 p.m. Dr. habil. Christian Beetz will be discussing #GaucherDisease at poster #1794. Register: bit.ly/2mppWdb
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4 Oct 2019
#CENTOGENE will be presenting posters at #ASHG2019 on #GaucherDisease and #VariantReclassification. Join us at booth 1526 to find out about CentoMD® - CENTOGENE’s mutation database of #RareDiseases, & our #diagnostic solutions. Register: bit.ly/2mppWdb
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5 Nov 2018
Our #variantreclassification program was designed to apply all new diagnostic observations to all our past patients affected. Every year, our variant reclassification influences the diagnosis of hundreds of patients, allowing for better disease management. bit.ly/2NiDgw5
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24 Sep 2018
Join Dr. Gabriela-Elena Oprea, Senior Vice President Digital Products at CENTOGENE, as she talks about the essential role of transparent, clear and accurate #variantreclassification & proactive communication. It’s just a few clicks away, register here: bit.ly/2Mox8gW
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