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GRCh37/hg19 11p15.5(chr11:193142-299384)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:
RCV000240198.1

Allele description [Variation Report for GRCh37/hg19 11p15.5(chr11:193142-299384)x3]

GRCh37/hg19 11p15.5(chr11:193142-299384)x3

Genes:
  • BET1L:Bet1 golgi vesicular membrane trafficking protein like [Gene - OMIM - HGNC]
  • NLRP6:NLR family pyrin domain containing 6 [Gene - OMIM - HGNC]
  • RIC8A:RIC8 guanine nucleotide exchange factor A [Gene - OMIM - HGNC]
  • IFITM5:interferon induced transmembrane protein 5 [Gene - OMIM - HGNC]
  • ODF3:outer dense fiber of sperm tails 3 [Gene - OMIM - HGNC]
  • PSMD13:proteasome 26S subunit, non-ATPase 13 [Gene - OMIM - HGNC]
  • PGGHG:protein-glucosylgalactosylhydroxylysine glucosidase [Gene - OMIM - HGNC]
  • SCGB1C1:secretoglobin family 1C member 1 [Gene - OMIM - HGNC]
  • SIRT3:sirtuin 3 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
11p15.5
Genomic location:
Chr11: 193142 - 299384 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 11p15.5(chr11:193142-299384)x3
HGVS:

    Condition(s)

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

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV000298737GeneDx
    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, SCV000298737.1

    #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