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GRCh37/hg19 12q24.21(chr12:116327565-116409453)x3

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Interpretation:
Uncertain significance​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Nov 14, 2018)
Last evaluated:
Feb 12, 2018
Accession:
VCV000688780.1
Variation ID:
688780
Description:
copy number gain
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GRCh37/hg19 12q24.21(chr12:116327565-116409453)x3

Allele ID
676372
Variant type
copy number gain
Variant length
-
Cytogenetic location
12q24.21
Genomic location
12: 116327565-116409453 (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
Uncertain significance 1 no assertion criteria provided Feb 12, 2018 RCV000849471.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MED13L Sufficient evidence for dosage pathogenicity Little evidence for dosage pathogenicity GRCh38
GRCh37
503 520

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Feb 12, 2018)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: unknown
Lineagen, Inc
Accession: SCV000991613.1
Submitted: (Nov 14, 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 Mar 07, 2021