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NM_015335.4(MED13L):c.1010-11dup

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Interpretation:
Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Aug 31, 2021)
Last evaluated:
Apr 3, 2020
Accession:
VCV000706558.4
Variation ID:
706558
Description:
1bp duplication
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NM_015335.4(MED13L):c.1010-11dup

Allele ID
695552
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
12q24.21
Genomic location
12: 116015277-116015278 (GRCh38) GRCh38 UCSC
12: 116453082-116453083 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.116453090dup
NC_000012.12:g.116015285dup
NG_023366.1:g.266909dup
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000012.12:116015277:AAAAAAAA:AAAAAAAAA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs771044608
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, multiple submitters, no conflicts Apr 3, 2020 RCV000877206.3
Likely benign 1 criteria provided, single submitter Jan 13, 2020 RCV001471009.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MED13L Sufficient evidence for dosage pathogenicity Little evidence for dosage pathogenicity GRCh38
GRCh37
506 523

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Nov 09, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001019908.1
Submitted: (Mar 14, 2019)
Evidence details
Likely benign
(Jan 13, 2020)
criteria provided, single submitter
Method: clinical testing
Transposition of the great arteries, dextro-looped 1
Allele origin: germline
Invitae
Accession: SCV001675111.1
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Apr 03, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001812485.1
Submitted: (Aug 31, 2021)
Evidence details

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 rs771044608...

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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 06, 2021