ClinVar Genomic variation as it relates to human health
Help
- Interpretation:
-
Pathogenic
- Review status:
- no assertion criteria provided
- Submissions:
- 1
- First in ClinVar:
- Sep 3, 2022
- Most recent Submission:
- Sep 3, 2022
- Accession:
- VCV001703574.1
- Variation ID:
- 1703574
- Description:
- copy number gain
Help
GRCh37/hg19 18p11.32-q23(chr18:1-78077248)
- Allele ID
- 1695965
- Variant type
- copy number gain
- Variant length
- -
- Cytogenetic location
- 18p11.32-q23
- Genomic location
- 18: 1-78077248 (GRCh37) GRCh37 UCSC
- HGVS
- -
- Protein change
- -
- Other names
- -
- Canonical SPDI
- -
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- -
- Allele frequency
- -
- Links
- VarSome
Help
Aggregate interpretations per condition
| Interpreted condition | Interpretation | Number of submissions | Review status | Last evaluated | Variation/condition record |
|---|---|---|---|---|---|
| Pathogenic | 1 | no assertion criteria provided | - | RCV002280660.1 |
Help
There are 259 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
There are 259 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
Affected status: yes
Allele origin:
unknown,
germline
|
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
Accession: SCV002568925.1
First in ClinVar: Sep 03, 2022 Last updated: Sep 03, 2022 |
Observation 1:
Clinical Features:
Abnormal facial shape (present)
Observation 2:
Number of individuals with the variant: 1
Clinical Features:
Abnormal facial shape (present) , Fetal growth restriction (present) , Patent ductus arteriosus (present) , Single umbilical artery (present) , Complete atrioventricular canal (present) , … (more)
Abnormal facial shape (present) , Fetal growth restriction (present) , Patent ductus arteriosus (present) , Single umbilical artery (present) , Complete atrioventricular canal (present) , Ear malformation (present) (less)
|
Functional evidence
Help| There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for this variant
Help| There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Record last updated Oct 21, 2023