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GRCh37/hg19 Xp11.22(chrX:53542604-53953746)x2 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 8, 2018
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000684335.1

Allele description [Variation Report for GRCh37/hg19 Xp11.22(chrX:53542604-53953746)x2]

GRCh37/hg19 Xp11.22(chrX:53542604-53953746)x2

Genes:
HUWE1:HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 [Gene - OMIM - HGNC]
MIR98:microRNA 98 [Gene - OMIM - HGNC]
MIRLET7F2:microRNA let-7f-2 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
Xp11.22
Genomic location:
ChrX: 53542604 - 53953746 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 Xp11.22(chrX:53542604-53953746)x2
HGVS:

    Condition(s)

    Synonyms:
    none provided
    Identifiers:
    MedGen: CN517202

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV000811844Quest Diagnostics Nichols Institute San Juan Capistrano
    no assertion criteria provided
    		Pathogenic
    (Feb 8, 2018)     		germlineclinical testing

    Help

    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, SCV000811844.1

    #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: Apr 23, 2022