GRCh37/hg19 2q37.3(chr2:238072533-242783384)x1 AND See cases

Clinical significance:Pathogenic

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:
RCV000447929.1

Allele description [Variation Report for GRCh37/hg19 2q37.3(chr2:238072533-242783384)x1]

GRCh37/hg19 2q37.3(chr2:238072533-242783384)x1

Genes:
Variant type:
copy number loss
Cytogenetic location:
2q37.3
Genomic location:
Chr2: 238072533 - 242783384 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 2q37.3(chr2:238072533-242783384)x1
HGVS:
    Links:
    dbVar: nssv13646688; dbVar: nsv2772523
    Observations:
    1

    Condition(s)

    Name:
    See cases [See the Variation display for details]
    Identifiers:

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000501898ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratoriesno assertion criteria providedPathogenicnot providedclinical testing

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providednot providedyes1not providednot providednot providednot providedclinical testing

    Details of each submission

    From ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories, SCV000501898.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not provided1not providednot providedclinical testingnot provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1not providedyesnot providednot providedDiscovery1not providednot providednot provided

    Last Updated: Sep 10, 2019

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