Pathology Portal

Genomic Variants

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Typically, genomic analysis will focus on particular parts of the genome known to have an impact on health. But what happens when a variant is discovered that appears causative but lacks sufficient evidence? Here, consultantclinical geneticist Dr Richard Scott discusses the challenges presented bygeneticvariants of unknown significance.

This film forms part of ourClinical Genetics in Action series, created in collaboration with the Royal College of Physicians.

Resource details

Contributed by: Pathology Portal
Authored by: Genomics Education Programme
Mahesh Prahladan, RCPath Pathology Portal, Consultant
Licence: More information on licences
Last updated: 21 November 2023
First contributed: 01 July 2023
Audience access level: Full user

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