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GRCh37/hg19 20q13.33(chr20:58416428-58554011)x3 AND not provided

Germline classification:
Benign (1 submission)
Last evaluated:
Sep 13, 2011
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:
RCV000741297.2

Allele description

GRCh37/hg19 20q13.33(chr20:58416428-58554011)x3

Genes:
CDH26:cadherin 26 [Gene - OMIM - HGNC]
FAM217B:family with sequence similarity 217 member B [Gene - HGNC]
PHACTR3:phosphatase and actin regulator 3 [Gene - OMIM - HGNC]
PPP1R3D:protein phosphatase 1 regulatory subunit 3D [Gene - OMIM - HGNC]
SYCP2:synaptonemal complex protein 2 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
20q13.33
Genomic location:
Chr20: 58416428 - 58554011 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 20q13.33(chr20:58416428-58554011)x3
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
    SCV000869633Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center
    no assertion criteria provided
    		Benign
    (Sep 13, 2011)     		unknownclinical testing

    Help

    Summary from all submissions

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

    Details of each submission

    From Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center, SCV000869633.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedclinical testing
    (GTR000295241.2)    		not provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1unknownunknownnot providedtissuenot provided
    (GTR000295241.2)    		not providednot providednot providednot provided

    Last Updated: Mar 4, 2023