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GRCh37/hg19 Xp22.2(chrX:12910521-13535330)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 25, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000663403.2

Allele description [Variation Report for GRCh37/hg19 Xp22.2(chrX:12910521-13535330)x3]

GRCh37/hg19 Xp22.2(chrX:12910521-13535330)x3

Genes:
ATXN3L:ataxin 3 like [Gene - OMIM - HGNC]
FAM9C:family with sequence similarity 9 member C [Gene - OMIM - HGNC]
TMSB4X:thymosin beta 4 X-linked [Gene - OMIM - HGNC]
TLR8:toll like receptor 8 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
Xp22.2
Genomic location:
ChrX: 12910521 - 13535330 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 Xp22.2(chrX:12910521-13535330)x3
HGVS:
    Observations:
    1

    Condition(s)

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

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    Assertion and evidence details

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    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV000786689Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington
    criteria provided, single submitter

    (Clinical Cytogenomics Laboratory Policy on CNV Interpretation)    		Uncertain significance
    (Oct 25, 2017)     		unknownclinical testing

    Clinical Cytogenomics Laboratory Policy on CNV Interpretation.docx

    Citation Link

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    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedunknownyes11not providednot providednot providedclinical testing

    Details of each submission

    From Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington, SCV000786689.2

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not provided1not providednot providedclinical testingnot provided

    Description

    Patient also had Xq26.3(134,294,325-134,786,450)x3

    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1unknownyesnot providedAmniocytesnot provided1not provided1not provided

    Last Updated: Dec 11, 2022