ClinVar Genomic variation as it relates to human health
Single allele
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
There are 301 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
- | RCV002280670.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023
Exon-level array analysis identified a mosaic copy number variant involving the entire X chromosome: a loss of the majority of the short arm (56 Mb) and a gain involving the centromeric region and the entire long arm (99Mb). This pattern suggestive of the presence of an isochromosome of the long arm of the X chromosome.