GRCh37/hg19 Xp22.2-22.13(chrX:16969302-17731092)x3 AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jul 26, 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:
RCV000684281.1

Allele description [Variation Report for GRCh37/hg19 Xp22.2-22.13(chrX:16969302-17731092)x3]

GRCh37/hg19 Xp22.2-22.13(chrX:16969302-17731092)x3

Genes:
NHS:NHS actin remodeling regulator [Gene - OMIM - HGNC]
REPS2:RALBP1 associated Eps domain containing 2 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
Xp22.2-22.13
Genomic location:
ChrX: 16969302 - 17731092 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 Xp22.2-22.13(chrX:16969302-17731092)x3
HGVS:

    Condition(s)

    Identifiers:
    MedGen: CN517202

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000811790Quest Diagnostics Nichols Institute San Juan Capistranono assertion criteria providedUncertain significance
    (Jul 26, 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, SCV000811790.1

    #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: Aug 29, 2019

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