Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

GRCh37/hg19 17q21.31(chr17:44215823-44296224)x3

Help
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
Help

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
Help

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
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
KANSL1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh38
GRCh38
GRCh37
1056 1199

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