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NM_001142763.1:c.-189197_c.610-5166del

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Jan 21, 2016)
Last evaluated:
Aug 28, 2015
Accession:
VCV000224748.2
Variation ID:
224748
Description:
deletion
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NM_001142763.1:c.-189197_c.610-5166del

Allele ID
226539
Variant type
Deletion
Variant length
-
Cytogenetic location
10q21.1
Genomic location
-
HGVS
-
Protein change
-
Other names
-
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
-
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 no assertion criteria provided Aug 28, 2015 RCV000210332.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PCDH15 - - GRCh38
GRCh37
1632 1691

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Aug 28, 2015)
no assertion criteria provided
Method: clinical testing
Usher syndrome type 1D
Allele origin: germline
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals
Accession: SCV000259087.1
Submitted: (Jan 21, 2016)
Evidence details
Publications
PubMed (1)

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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Title Author Journal Year Link
Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease. Jiman OA European journal of human genetics : EJHG 2020 PMID: 31836858
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. Ellingford JM Ophthalmology 2016 PMID: 26872967

Record last updated Sep 29, 2021