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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

Efficacy of direct pulp capping for management of cariously exposed pulps in permanent teeth: a systematic review and meta-analysis.
Cushley S, Duncan HF, Lappin MJ, Chua P, Elamin AD, Clarke M, El-Karim IA
Int Endod J 2021 Apr;54(4):556-571. Epub 2020 Dec 28 doi: 10.1111/iej.13449. PMID: 33222178
Clinical Practice Guideline: Sudden Hearing Loss (Update).
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
Drug interventions for the treatment of obesity in children and adolescents.
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

Supplemental Content

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    Related information

    • ClinVar
      Related medical variations
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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