Heterozygous Pathogenic and Likely Pathogenic Symptomatic <i>HTRA1</i> Variant Carriers in Cerebral Small Vessel Disease.

Among probands rated as variants of indeterminate significance, the judgment of pathogenicity was often affected by lack of evidence such as de novo data (with or without paternity and maternity confirmed) —PS2/PM6, and functional data —PS3/PM1/PP2.

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