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not specified

MedGen UID:
490020
Concept ID:
CN169374
Disease or Syndrome
Synonym: 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 NCBI]

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.

Professional guidelines

PubMed

Donnelly A, Foschi F, McCabe P, Duncan HF
Int Endod J 2022 Apr;55(4):290-311. Epub 2022 Feb 16 doi: 10.1111/iej.13690. PMID: 35076954Free PMC Article
Chandrasekhar SS, Tsai Do BS, Schwartz SR, Bontempo LJ, Faucett EA, Finestone SA, Hollingsworth DB, Kelley DM, Kmucha ST, Moonis G, Poling GL, Roberts JK, Stachler RJ, Zeitler DM, Corrigan MD, Nnacheta LC, Satterfield L
Otolaryngol Head Neck Surg 2019 Aug;161(1_suppl):S1-S45. doi: 10.1177/0194599819859885. PMID: 31369359
Mead E, Atkinson G, Richter B, Metzendorf MI, Baur L, Finer N, Corpeleijn E, O'Malley C, Ells LJ
Cochrane Database Syst Rev 2016 Nov 29;11(11):CD012436. doi: 10.1002/14651858.CD012436. PMID: 27899001Free PMC Article

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