GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 AND See cases

Clinical significance:Pathogenic (Last evaluated: Jan 20, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000239934.1

Allele description [Variation Report for GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3]

GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3

Genes:
Variant type:
copy number gain
Cytogenetic location:
Xp22.33-q28
Genomic location:
ChrX: 70297 - 155255839 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3
HGVS:

    Condition(s)

    Name:
    See cases [See the Variation display for details]
    Identifiers:

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000298301GeneDxcriteria provided, single submitter
    Pathogenic
    (Jan 20, 2016)
    unknownclinical testing

    Citation Link

    Summary from all submissions

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

    Details of each submission

    From GeneDx, SCV000298301.3

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

    Last Updated: Sep 8, 2019

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