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並前往https://www.eshg.org/fileadmin/www.eshg.org/documents/Variant_classification_system/Variant_class_ESHG.pdf

Variant classification and reporting

ESHG prototype system. • A: Molecular grading 1-5 - based on the ACMG/AMP system. • B: Clinical grading 1-5 – considering e.g. penetrance and gene type.

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