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GRCh37/hg19 22q11.22(chr22:22953514-23489966)x3 AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 18, 2021
Review status:
Somatic classification
of clinical impact:
None
Review status:
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
no assertion criteria provided
Record status:
current
Accession:
RCV001827799.1

Allele description [Variation Report for GRCh37/hg19 22q11.22(chr22:22953514-23489966)x3]

GRCh37/hg19 22q11.22(chr22:22953514-23489966)x3

Genes:
  • GNAZ:G protein subunit alpha z [Gene - OMIM - HGNC]
  • RAB36:RAB36, member RAS oncogene family [Gene - OMIM - HGNC]
  • GGTLC2:gamma-glutamyltransferase light chain 2 [Gene - OMIM - HGNC]
  • IGLC1:immunoglobulin lambda constant 1 [Gene - OMIM - HGNC]
  • IGLL5:immunoglobulin lambda like polypeptide 5 [Gene - HGNC]
  • RSPH14:radial spoke head 14 homolog [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
22q11.22
Genomic location:
Chr22: 22953514 - 23489966 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 22q11.22(chr22:22953514-23489966)x3
HGVS:

    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
    SCV002096354Quest Diagnostics Nichols Institute San Juan Capistrano
    no assertion criteria provided
    Uncertain significance
    (Jan 18, 2021)
    germlineclinical testing

    Last Updated: Apr 23, 2022

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