GRCh37/hg19 9p24.3(chr9:242083-567615)x3 AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jan 8, 2018)

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

no assertion criteria provided

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for GRCh37/hg19 9p24.3(chr9:242083-567615)x3]

GRCh37/hg19 9p24.3(chr9:242083-567615)x3

KANK1:KN motif and ankyrin repeat domains 1 [Gene - OMIM - HGNC]
DOCK8:dedicator of cytokinesis 8 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
Genomic location:
Chr9: 242083 - 567615 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 9p24.3(chr9:242083-567615)x3


    MedGen: CN517202

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    SCV000810620Quest Diagnostics Nichols Institute San Juan Capistranono assertion criteria providedUncertain significance
    (Jan 8, 2018)
    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, SCV000810620.1

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

    Last Updated: Aug 29, 2019

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