GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1 AND not provided

Clinical significance:Pathogenic (Last evaluated: Aug 28, 2017)

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:
RCV000684401.1

Allele description [Variation Report for GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1]

GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1

Genes:
Variant type:
copy number loss
Cytogenetic location:
Xq27.1-28
Genomic location:
ChrX: 139504488 - 155233731 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1
HGVS:

    Condition(s)

    Identifiers:
    MedGen: CN517202

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000811910Quest Diagnostics Nichols Institute San Juan Capistranono assertion criteria providedPathogenic
    (Aug 28, 2017)
    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, SCV000811910.1

    #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: Sep 10, 2019

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