Evaluation of population frequency data for mitochondrial variant interpretation
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Presenting Author - Glenn A. Maston, PhD; Co-Author - Pernilla von Nandelstadh, PhD; Co-Author - Sari Tuupanen, PhD; Co-Author - Izabela Karbassi, PhD, FACMG; Co-Author - Juha W. Koskenvuo, MD, PhD;
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Mitochondria
Co-Author Pernilla von Nandelstadh, PhD
Co-Author Sari Tuupanen, PhD
Co-Author Izabela Karbassi, PhD, FACMG
Co-Author Juha W. Koskenvuo, MD, PhD
Presenting Author Glenn A. Maston, PhD
Keywords
VUSs
clinical genetic testing
variant classification
pathogenic variants
benign variants
mitochondrial DNA
frequency thresholds
mitochondrial variants
expert panel threshold
Disease Allele Frequency

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