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NCBI36/hg18 16p13.13(chr16:11229681-11345345)x3

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Interpretation:
Uncertain significance​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Feb 28, 2017)
Accession:
VCV000400294.1
Variation ID:
400294
Description:
copy number gain
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NCBI36/hg18 16p13.13(chr16:11229681-11345345)x3

Allele ID
387267
Variant type
copy number gain
Variant length
-
Cytogenetic location
16p13.13
Genomic location
16: 11194565-11362521 (NCBI36) NCBI36 UCSC
HGVS
-
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbVar: nssv13646943
dbVar: nsv2774796
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 no assertion criteria provided - RCV000451073.1
Help No affected genes found.

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(-)
no assertion criteria provided
Method: clinical testing
See cases
Allele origin: not provided
ISCA site 19
Accession: SCV000497373.1
Submitted: (Feb 28, 2017)
Comment:
Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter. For ... (more)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Miller DT American journal of human genetics 2010 PMID: 20466091

Record last updated Aug 29, 2019