GRCh37/hg19 13q14.2(chr13:48806510-49065259)x3 AND not provided

Clinical significance:Benign (Last evaluated: Jul 16, 2013)

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:
RCV000738188.1

Allele description [Variation Report for GRCh37/hg19 13q14.2(chr13:48806510-49065259)x3]

GRCh37/hg19 13q14.2(chr13:48806510-49065259)x3

Genes:
RB1:RB transcriptional corepressor 1 [Gene - OMIM - HGNC]
RCBTB2:RCC1 and BTB domain containing protein 2 [Gene - OMIM - HGNC]
ITM2B:integral membrane protein 2B [Gene - OMIM - HGNC]
LPAR6:lysophosphatidic acid receptor 6 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
13q14.2
Genomic location:
Chr13: 48806510 - 49065259 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 13q14.2(chr13:48806510-49065259)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
    SCV000866524Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Centerno assertion criteria providedBenign
    (Jul 16, 2013)
    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, SCV000866524.1

    #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: Jun 17, 2019

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