GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 AND not provided

Clinical significance:Pathogenic (Last evaluated: Sep 1, 2011)

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:
RCV000753271.1

Allele description [Variation Report for GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1]

GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1

Genes:
Variant type:
copy number loss
Cytogenetic location:
Xp22.33-q28
Genomic location:
ChrX: 60262 - 155245765 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1
HGVS:

    Condition(s)

    Identifiers:
    MedGen: CN517202

    Recent activity

    Your browsing activity is temporarily unavailable.

    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000881607Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Centerno assertion criteria providedPathogenic
    (Sep 1, 2011)
    unknownclinical testing

    Summary from all submissions

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

    Details of each submission

    From Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center, SCV000881607.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedclinical testing
    (GTR000295241.2)
    not provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1unknownunknownnot providedbloodnot provided
    (GTR000295241.2)
    not providednot providednot providednot provided

    Last Updated: Sep 8, 2019

    Support Center