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GRCh37/hg19 7q11.23(chr7:72718277-74142256) AND 7q11.23 microduplication syndrome

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003320440.1

Allele description

GRCh37/hg19 7q11.23(chr7:72718277-74142256)

Genes:
Variant type:
copy number gain
Cytogenetic location:
7q11.23
Genomic location:
Chr7: 72718277 - 74142256 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 7q11.23(chr7:72718277-74142256)

Condition(s)

Name:
7q11.23 microduplication syndrome
Synonyms:
CHROMOSOME 7q11.23 DUPLICATION SYNDROME; WBS DUPLICATION SYNDROME; Williams-Beuren region duplication syndrome
Identifiers:
MONDO: MONDO:0012342; MedGen: C1857844; OMIM: 609757

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004024471Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea
no assertion criteria provided
Pathogenicunknownclinical testing

Summary from all submissions

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

Details of each submission

From Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, SCV004024471.1

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

Last Updated: Aug 19, 2023