U.S. flag

An official website of the United States government

GRCh37/hg19 5p13.2(chr5:37158123-37591118)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 28, 2018
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:
RCV001007439.1

Allele description [Variation Report for GRCh37/hg19 5p13.2(chr5:37158123-37591118)x3]

GRCh37/hg19 5p13.2(chr5:37158123-37591118)x3

Genes:
WDR70:WD repeat domain 70 [Gene - OMIM - HGNC]
CPLANE1:ciliogenesis and planar polarity effector complex subunit 1 [Gene - OMIM - HGNC]
NUP155:nucleoporin 155 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
5p13.2
Genomic location:
Chr5: 37158123 - 37591118 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 5p13.2(chr5:37158123-37591118)x3
HGVS:
    Observations:
    1

    Condition(s)

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

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...

    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV001167054Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington
    criteria provided, single submitter

    (Clinical Cytogenomics Laboratory Policy on CNV Interpretation)    		Uncertain significance
    (May 28, 2018)     		unknownclinical testing

    Citation Link

    Help

    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, SCV001167054.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not provided1not providednot providedclinical testingnot provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1unknownyesnot providedCord bloodnot provided1not provided1not provided

    Last Updated: Apr 23, 2022