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GRCh37/hg19 22q13.1-13.2(chr22:40545592-42096995)x3 AND Syndromic craniosynostosis

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 9, 2023
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:
RCV003481509.1

Allele description [Variation Report for GRCh37/hg19 22q13.1-13.2(chr22:40545592-42096995)x3]

GRCh37/hg19 22q13.1-13.2(chr22:40545592-42096995)x3

Genes:
Variant type:
copy number gain
Cytogenetic location:
22q13.1-13.2
Genomic location:
Chr22: 40545592 - 42096995 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 22q13.1-13.2(chr22:40545592-42096995)x3
HGVS:

    Condition(s)

    Name:
    Syndromic craniosynostosis
    Identifiers:
    MONDO: MONDO:0015338; MedGen: C5680624

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV004174878Klinisk genetik och genomik Research, Gothenburg University
    no assertion criteria provided
    Likely pathogenic
    (Nov 9, 2023)
    de novoresearch

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedde novoyesnot providednot providednot providednot providednot providedresearch

    Details of each submission

    From Klinisk genetik och genomik Research, Gothenburg University, SCV004174878.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedresearchnot provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1de novoyesnot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Jan 6, 2024