U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

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
Thoracoscopic Management of Blebs: Resection With/Out Primary Pleurodesis.
da Costa KM, Saxena AK
Indian J Pediatr 2018 Apr;85(4):257-260. Epub 2017 Oct 27 doi: 10.1007/s12098-017-2485-z. PMID: 29076100
Treatment of multiple test readers in diagnostic accuracy systematic reviews-meta-analyses of imaging studies.
McGrath TA, McInnes MDF, Langer FW, Hong J, Korevaar DA, Bossuyt PMM
Eur J Radiol 2017 Aug;93:59-64. Epub 2017 May 27 doi: 10.1016/j.ejrad.2017.05.032. PMID: 28668432

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

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

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...