Uncertain pathology

The American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) clinical variant interpretation guidelines established criteria for different types of evidence. This includes the strong evidence codes PS3 and BS3 for “well-established” functional assays demonstrating a variant has abnormal or normal gene/protein function, respectively.

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Variants of uncertain significance represent a massive challenge to medical genetics. Multiplexed functional assays, in which the functional effects of thousands of genomic variants are assessed simultaneously, are increasingly generating data that can be used as additional evidence for or against variant pathogenicity.

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Bladder Cancer (BCa) is a severe genitourinary tract disease with an uncertain pathology. Increasing evidence indicates that the tumor microenvironment plays a decisive role with respect to cancer progression, and that this is driven by tumor cell interactions with stromal components.

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Evaluation of Patients with Pathologic Vestibular Vertigo The evaluation depends on whether a central etiology is suspected (Table 22-2). If so, MRI of the head is mandatory. Such an examination is rarely helpful in cases of recurrent monosymptomatic vertigo with a normal neurologic examination. Typical BPPV requires no investigation after the diagnosis is made (Table 22-1).

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