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NM_003611.3(OFD1):c.2758-4A>G

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 5, 2017)
Last evaluated:
Feb 1, 2016
Accession:
VCV000436104.1
Variation ID:
436104
Description:
single nucleotide variant
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NM_003611.3(OFD1):c.2758-4A>G

Allele ID
430664
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xp22.2
Genomic location
X: 13768050 (GRCh38) GRCh38 UCSC
X: 13786169 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.13786169A>G
NC_000023.11:g.13768050A>G
NM_001330210.1:c.2338-4A>G
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA645372669
dbSNP: rs1555908820
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Feb 1, 2016 RCV000502971.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
OFD1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
300 472

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Feb 01, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000596160.1
Submitted: (Jul 05, 2017)
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 Jan 14, 2020