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Germline Report Overview

The sequencing test report for a germline analysis consists of the following sections plus a header. Information for the report is entered on the numbered section tabs.

Pathogenic—Autopopulated with variants assigned an interpretation of Pathogenic.
Likely Pathogenic—Autopopulated with variants assigned an interpretation of Likely Path.
VUS—Autopopulated with variants assigned an interpretation of VUS.
Benign—Autopopulated with variants assigned an interpretation of Benign.
Likely Benign—Autopopulated with variants assigned an interpretation of Likely Benign.
Indeterminate Results—Enter areas of low coverage, regions that could not be interpreted, and other variants not captured on the autopopulated tabs.
General Information—Consists of free text fields for boilerplate information for the case. Enter general information about the test type, methodology, background, and criteria for classification.
References—Enter citations to publications and guidelines that support the interpretations.

The number of variants listed on an autopopulated tab is identified in parenthesis next to the tab name. These autopopulated tabs include free text fields for additional notes on findings for the variants listed on that tab.