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GRCh37/hg19 2q21.3(chr2:135848568-135891603)x3 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 1, 2018
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:
RCV001091277.11

Allele description

GRCh37/hg19 2q21.3(chr2:135848568-135891603)x3

Gene:
RAB3GAP1:RAB3 GTPase activating protein catalytic subunit 1 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
2q21.3
Genomic location:
Chr2: 135848568 - 135891603 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 2q21.3(chr2:135848568-135891603)x3
HGVS:
    Observations:
    1

    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
    SCV001247211CeGaT Center for Human Genetics Tuebingen
    criteria provided, single submitter

    (Praxis fuer Humangenetik Tuebingen - Variant Classification Criteria)    		Pathogenic
    (Apr 1, 2018)     		germlineclinical testing

    Citation Link

    Help

    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, SCV001247211.15

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

    Last Updated: Sep 16, 2023