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GRCh37/hg19 17q21.31(chr17:44215823-44292319)x2 AND not provided

Clinical significance:Benign (Last evaluated: Jul 2, 2014)

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

no assertion criteria provided

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Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000752120.2

Allele description [Variation Report for GRCh37/hg19 17q21.31(chr17:44215823-44292319)x2]

GRCh37/hg19 17q21.31(chr17:44215823-44292319)x2

Gene:
KANSL1:KAT8 regulatory NSL complex subunit 1 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
17q21.31
Genomic location:
Chr17: 44215823 - 44292319 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 17q21.31(chr17:44215823-44292319)x2
HGVS:

    Condition(s)

    Synonyms:
    none provided
    Identifiers:
    MedGen: CN517202

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    Assertion and evidence details

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    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV000880456Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Centerno assertion criteria providedBenign
    (Jul 2, 2014)     		unknownclinical testing

    Summary from all submissions

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

    Details of each submission

    From Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center, SCV000880456.1

    #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: Mar 4, 2023