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GRCh37/hg19 7p22.3(chr7:2126598-2329197)x3 AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 31, 2017
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:
RCV000585320.3

Allele description [Variation Report for GRCh37/hg19 7p22.3(chr7:2126598-2329197)x3]

GRCh37/hg19 7p22.3(chr7:2126598-2329197)x3

Genes:
MRM2:mitochondrial rRNA methyltransferase 2 [Gene - OMIM - HGNC]
MAD1L1:mitotic arrest deficient 1 like 1 [Gene - OMIM - HGNC]
NUDT1:nudix hydrolase 1 [Gene - OMIM - HGNC]
SNX8:sorting nexin 8 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
7p22.3
Genomic location:
Chr7: 2126598 - 2329197 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 7p22.3(chr7:2126598-2329197)x3
HGVS:
    Observations:
    1

    Condition(s)

    Synonyms:
    none provided
    Identifiers:
    MedGen: CN517202

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000693428CeGaT Center for Human Genetics Tuebingen
    criteria provided, single submitter

    (Praxis fuer Humangenetik Tuebingen - Variant Classification Criteria)
    Uncertain significance
    (Oct 31, 2017)
    germlineclinical testing

    Citation Link

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedgermlineyes1not providednot providednot providednot providedclinical testing

    Details of each submission

    From CeGaT Center for Human Genetics Tuebingen, SCV000693428.4

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

    Last Updated: Dec 24, 2022