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GRCh37/hg19 19q13.33(chr19:48876760-49053557)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 20, 2016
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:
RCV000240360.1

Allele description [Variation Report for GRCh37/hg19 19q13.33(chr19:48876760-49053557)x3]

GRCh37/hg19 19q13.33(chr19:48876760-49053557)x3

Genes:
  • KDELR1:KDEL endoplasmic reticulum protein retention receptor 1 [Gene - OMIM - HGNC]
  • CYTH2:cytohesin 2 [Gene - OMIM - HGNC]
  • GRIN2D:glutamate ionotropic receptor NMDA type subunit 2D [Gene - OMIM - HGNC]
  • GRWD1:glutamate rich WD repeat containing 1 [Gene - OMIM - HGNC]
  • LMTK3:lemur tyrosine kinase 3 [Gene - OMIM - HGNC]
  • KCNJ14:potassium inwardly rectifying channel subfamily J member 14 [Gene - OMIM - HGNC]
  • SYNGR4:synaptogyrin 4 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
19q13.33
Genomic location:
Chr19: 48876760 - 49053557 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 19q13.33(chr19:48876760-49053557)x3
HGVS:

    Condition(s)

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

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    Assertion and evidence details

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    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV000298932GeneDx
    criteria provided, single submitter

    (GeneDx Variant Classification (06012015))    		Uncertain significance
    (Jan 20, 2016)     		unknownclinical testing

    Citation Link

    Help

    Summary from all submissions

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

    Details of each submission

    From GeneDx, SCV000298932.1

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

    Last Updated: Apr 23, 2022