GRCh37/hg19 12q24.21(chr12:116326288-116417238)x3 AND not provided

Clinical significance:Uncertain significance (Last evaluated: Oct 4, 2017)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000847909.1

Allele description [Variation Report for GRCh37/hg19 12q24.21(chr12:116326288-116417238)x3]

GRCh37/hg19 12q24.21(chr12:116326288-116417238)x3

Gene:
MED13L:mediator complex subunit 13L [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
12q24.21
Genomic location:
Chr12: 116326288 - 116417238 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 12q24.21(chr12:116326288-116417238)x3
HGVS:

    Condition(s)

    Identifiers:
    MedGen: CN517202

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000990042Lineagen, Incno assertion criteria providedUncertain significance
    (Oct 4, 2017)
    unknownclinical testing

    Summary from all submissions

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

    Details of each submission

    From Lineagen, Inc, SCV000990042.1

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

    Last Updated: Mar 7, 2021

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