ClinVar Genomic variation as it relates to human health
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- Interpretation:
-
Benign
- Review status:
- no assertion criteria provided
- Submissions:
- 1
- First in ClinVar:
- Jan 22, 2019
- Most recent Submission:
- Jan 22, 2019
- Last evaluated:
- May 27, 2015
- Accession:
- VCV000615485.1
- Variation ID:
- 615485
- Description:
- copy number gain
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GRCh37/hg19 17q21.31(chr17:44215823-44296224)x3
- Allele ID
- 606821
- Variant type
- copy number gain
- Variant length
- -
- Cytogenetic location
- 17q21.31
- Genomic location
- 17: 44215823-44296224 (GRCh37) GRCh37 UCSC
- HGVS
- -
- Protein change
- -
- Other names
- -
- Canonical SPDI
- -
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- -
- Allele frequency
- -
- Links
- VarSome
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Aggregate interpretations per condition
| Interpreted condition | Interpretation | Number of submissions | Review status | Last evaluated | Variation/condition record |
|---|---|---|---|---|---|
| Benign | 1 | no assertion criteria provided | May 27, 2015 | RCV000752121.1 |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Benign
(May 27, 2015)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
unknown
|
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory,Cincinnati Children's Hospital Medical Center
Accession: SCV000880457.1
First in ClinVar: Jan 22, 2019 Last updated: Jan 22, 2019 |
Clinical Features:
type 1 diabetes mellitus (present) , sleep disturbance (present)
Sex: male
Tissue: blood
|
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 Apr 24, 2022