U.S. flag

An official website of the United States government

GRCh37/hg19 5q35.2-35.3(chr5:175470000-177450000)x1 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 18, 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:
RCV004577486.1

Allele description [Variation Report for GRCh37/hg19 5q35.2-35.3(chr5:175470000-177450000)x1]

GRCh37/hg19 5q35.2-35.3(chr5:175470000-177450000)x1

Genes:
Variant type:
copy number loss
Cytogenetic location:
5q35.2-35.3
Genomic location:
Chr5: 175470000 - 177450000 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 5q35.2-35.3(chr5:175470000-177450000)x1
HGVS:

    Condition(s)

    Synonyms:
    none provided
    Identifiers:
    MedGen: C3661900

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...

    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV005061543Illumina Laboratory Services, Illumina
    criteria provided, single submitter

    (ICSL CNVClassificationCriteria Aug2020)
    Pathogenic
    (Aug 18, 2017)
    unknownclinical testing

    Citation Link

    Summary from all submissions

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

    Details of each submission

    From Illumina Laboratory Services, Illumina, SCV005061543.1

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

    Last Updated: Jun 23, 2024