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not specified

MedGen UID:
490020
Concept ID:
CN169374
Disease or Syndrome
Synonyms: AllHighlyPenetrant
 

Definition

The term 'not specified' was created for use in ClinVar so that submitters can convey the concept that a variant is benign, likely benign, or of uncertain significance for an unspecified set of disorders. This usage was introduced in 2014 to replace AllHighlyPenetrant. [from ClinVar]

Additional description

From NCBI curation
The term 'not specified' was created for use in ClinVar so that submitters can convey the concept that a variant is benign, likely benign, or of uncertain significance for an unspecified set of disorders. This usage was introduced in 2014 to replace AllHighlyPenetrant.

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