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NM_153240.5(NPHP3):c.824-94A>G

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Interpretation:
Benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 12, 2019)
Last evaluated:
Jun 16, 2018
Accession:
VCV000674997.1
Variation ID:
674997
Description:
single nucleotide variant
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NM_153240.5(NPHP3):c.824-94A>G

Allele ID
659723
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q22.1
Genomic location
3: 132715312 (GRCh38) GRCh38 UCSC
3: 132434156 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.132434156T>C
NC_000003.12:g.132715312T>C
NM_153240.5:c.824-94A>G
... more HGVS
Protein change
-
Other names
-
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
Benign 1 criteria provided, single submitter Jun 16, 2018 RCV000834326.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NPHP3 - - GRCh38
GRCh37
- 348
NPHP3-ACAD11 - - - GRCh38 - 372

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jun 16, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000976094.1
Submitted: (Apr 12, 2019)
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)

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