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NM_022124.6(CDH23):c.67+12C>T

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 5, 2020
Accession:
VCV000046017.3
Variation ID:
46017
Description:
single nucleotide variant
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NM_022124.6(CDH23):c.67+12C>T

Allele ID
55182
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q22.1
Genomic location
10: 71439910 (GRCh38) GRCh38 UCSC
10: 73199667 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.73199667C>T
NC_000010.11:g.71439910C>T
NG_008835.1:g.47964C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000010.11:71439909:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.05950 (T)

Allele frequency
1000 Genomes Project 0.05950
The Genome Aggregation Database (gnomAD), exomes 0.01148
Exome Aggregation Consortium (ExAC) 0.02648
The Genome Aggregation Database (gnomAD) 0.04736
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.04913
Trans-Omics for Precision Medicine (TOPMed) 0.05200
Links
ClinGen: CA137547
dbSNP: rs74144963
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Apr 30, 2013 RCV000039253.3
Benign 1 criteria provided, single submitter Jan 12, 2018 RCV000276957.2
Benign 1 criteria provided, single submitter Jan 12, 2018 RCV000369564.2
Benign 1 criteria provided, single submitter Dec 5, 2020 RCV001513133.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CDH23 - - GRCh38
GRCh37
2166 2606

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Feb 20, 2012)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000062937.5
Submitted: (Mar 21, 2019)
Evidence details
Comment:
67+12C>T in intron 2 of CDH23: This variant is not expected to have clinical sig nificance because it has been identified in 14% (484/3458) of … (more)
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Usher syndrome type 1D
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000363542.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Dec 05, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001720680.1
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Apr 30, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000167632.10
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Deafness, autosomal recessive 12
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000363543.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)

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.

Text-mined citations for rs74144963...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 30, 2021