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GRCh37/hg19 17q21.31(chr17:44135827-44294494)x3

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Interpretation:
Benign​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Apr 11, 2018)
Last evaluated:
May 21, 2014
Accession:
VCV000602903.1
Variation ID:
602903
Description:
copy number gain
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GRCh37/hg19 17q21.31(chr17:44135827-44294494)x3

Allele ID
594239
Variant type
copy number gain
Variant length
-
Cytogenetic location
17q21.31
Genomic location
17: 44135827-44294494 (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 21, 2014 RCV000739539.1
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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
878 1037

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(May 21, 2014)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: unknown
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory,Cincinnati Children's Hospital Medical Center
Accession: SCV000867875.1
Submitted: (Apr 11, 2018)
Evidence details

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 Jul 07, 2021