Table 3. [Variant Classification Categories and Clinical Implications]. - GeneReviews®

	Variant Classification
Meaning	NEGATIVE	UNCERTAIN	POSITIVE
No important variants detected. Genetic disease cannot be excluded.	Variant detected is likely harmless. Genetic disease cannot be excluded.	Ambiguous result; insufficient data re variant pathogenicity. Segregation studies may provide additional data.	Likely cause of HCM; segregation studies may provide additional evidence for causality.	Responsible for causing HCM
Utility for proband	None	None	Unknown	Suggests HCM diagnosis; may inform mgmt or lead to additonal diagnostic studies.	Establishes HCM diagnosis. May inform mgmt.
Utility for family	No option for predictive genetic testing; rely on longitudinal phenotypic eval.	No option for predictive genetic testing; rely on longitudinal phenotypic eval.	Predictive genetic not recommended; rely on longitudinal phenotypic eval. Consider segregation testing in affected relatives.	Predictive genetic testing should be approached carefully & may be combined w/phenotypic eval & surveillance.	Can be used for predictive genetic testing.

From: Hypertrophic Cardiomyopathy Overview

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

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	Variant Classification
	Benign or No Variant Found	Likely Benign	Of Uncertain Significance	Likely Pathogenic	Pathogenic
Meaning	NEGATIVE		UNCERTAIN	POSITIVE
Meaning	No important variants detected. Genetic disease cannot be excluded.	Variant detected is likely harmless. Genetic disease cannot be excluded.	Ambiguous result; insufficient data re variant pathogenicity. Segregation studies may provide additional data.	Likely cause of HCM; segregation studies may provide additional evidence for causality.	Responsible for causing HCM
Utility for proband	None	None	Unknown	Suggests HCM diagnosis; may inform mgmt or lead to additonal diagnostic studies.	Establishes HCM diagnosis. May inform mgmt.
Utility for family	No option for predictive genetic testing; rely on longitudinal phenotypic eval.	No option for predictive genetic testing; rely on longitudinal phenotypic eval.	Predictive genetic not recommended; rely on longitudinal phenotypic eval. Consider segregation testing in affected relatives.	Predictive genetic testing should be approached carefully & may be combined w/phenotypic eval & surveillance.	Can be used for predictive genetic testing.