Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.
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Insufficiently evaluated pathogenic
(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)
Summary of published research, and additional commentary
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Added in this revision:
huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom A @ chr4:102751076
huE80E3D - CGI sample GS00253-DNA_D01_200_37
het A @ chr4:102751076