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GRCh37/hg19 13q12.12(chr13:23519916-24928440)x1

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Interpretation:
Uncertain significance​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Feb 28, 2017)
Accession:
VCV000396268.1
Variation ID:
396268
Description:
copy number loss
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GRCh37/hg19 13q12.12(chr13:23519916-24928440)x1

Allele ID
383161
Variant type
copy number loss
Variant length
-
Cytogenetic location
13q12.12
Genomic location
13: 23519916-24928440 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.(?_23519916)_(24928440_?)del
Protein change
-
Other names
-
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbVar: nssv13646374
dbVar: nsv2771763
Varsome
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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 - RCV000449195.1

Clinical features observed in individuals with this variant

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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
C1QTNF9 - - GRCh38
GRCh37
- 66
C1QTNF9B - - GRCh38
GRCh37
- 76
MIPEP - - GRCh38
GRCh37
71 153
PCOTH - - GRCh38
GRCh37
- 82
SACS - - GRCh38
GRCh37
1801 1893
SGCG - - GRCh38
GRCh37
308 398
SPATA13 - - GRCh38
GRCh37
- 70
TNFRSF19 - - GRCh38
GRCh37
1 76

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
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories
Accession: SCV000501756.1
Submitted: (Feb 28, 2017)
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 Dec 25, 2020