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GRCh37/hg19 17q21.31(chr17:44165803-44364649)x3

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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:
Jul 17, 2012
Accession:
VCV000602934.1
Variation ID:
602934
Description:
copy number gain
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GRCh37/hg19 17q21.31(chr17:44165803-44364649)x3

Allele ID
594270
Variant type
copy number gain
Variant length
-
Cytogenetic location
17q21.31
Genomic location
17: 44165803-44364649 (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 Jul 17, 2012 RCV000739570.1
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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

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Benign
(Jul 17, 2012)
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: SCV000867906.1
First in ClinVar: Jan 22, 2019
Last updated: Jan 22, 2019
Clinical Features:
fetal ascites (present)
Sex: male
Tissue: amnio

Functional evidence

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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

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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