GRCh37/hg19 17q12(chr17:34822465-36410559)x3 AND not provided

Clinical significance:Pathogenic (Last evaluated: Apr 29, 2020)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001259334.1

Allele description [Variation Report for GRCh37/hg19 17q12(chr17:34822465-36410559)x3]

GRCh37/hg19 17q12(chr17:34822465-36410559)x3

Genes:
Variant type:
copy number gain
Cytogenetic location:
17q12
Genomic location:
Chr17: 34822465 - 36410559 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 17q12(chr17:34822465-36410559)x3
HGVS:

    Condition(s)

    Identifiers:
    MedGen: CN517202

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...

    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV001436303Quest Diagnostics Nichols Institute San Juan Capistranono assertion criteria providedPathogenic
    (Apr 29, 2020)
    germlineclinical testing

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

    Details of each submission

    From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001436303.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedclinical testingnot provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Nov 26, 2020

    Support Center