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NM_153717.3(EVC):c.2449+12C>G

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Oct 18, 2016)
Last evaluated:
Jun 14, 2016
Accession:
VCV000349205.1
Variation ID:
349205
Description:
single nucleotide variant
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NM_153717.3(EVC):c.2449+12C>G

Allele ID
295197
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4p16.2
Genomic location
4: 5802106 (GRCh38) GRCh38 UCSC
4: 5803833 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.5803833C>G
NC_000004.12:g.5802106C>G
NM_153717.3:c.2449+12C>G
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00079
Trans-Omics for Precision Medicine (TOPMed) 0.00046
The Genome Aggregation Database (gnomAD) 0.00096
Exome Aggregation Consortium (ExAC) 0.00089
Links
ClinGen: CA2836505
dbSNP: rs751678723
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000285710.1
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000343289.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
EVC - - GRCh38
GRCh37
455 529

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Weyers Acrofacial Dysostosis
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000450332.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Ellis-van Creveld Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000450331.2
Submitted: (Oct 18, 2016)
Evidence details

Citations for this variant

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 Oct 27, 2019