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GRCh37/hg19 3p26.3(chr3:2604833-2744663)x3 AND not specified

Germline classification:
Uncertain significance (1 submission)
Review status:
Somatic classification
of clinical impact:
None
Review status:
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
no assertion criteria provided
Record status:
current
Accession:
RCV003986416.1

Allele description [Variation Report for GRCh37/hg19 3p26.3(chr3:2604833-2744663)x3]

GRCh37/hg19 3p26.3(chr3:2604833-2744663)x3

Gene:
CNTN4:contactin 4 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
3p26.3
Genomic location:
Chr3: 2604833 - 2744663 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 3p26.3(chr3:2604833-2744663)x3
HGVS:
    Observations:
    1

    Condition(s)

    Synonyms:
    AllHighlyPenetrant
    Identifiers:
    MedGen: CN169374

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV004802545ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories
    criteria provided, single submitter

    (Constitutional Copy Number Variant Assertion Criteria)
    Uncertain significancegermlineclinical testing

    Citation Link

    Last Updated: Mar 30, 2024

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