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NM_015335.4(MED13L):c.73-5del

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Interpretation:
Benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 14, 2019)
Last evaluated:
Feb 28, 2018
Accession:
VCV000738172.1
Variation ID:
738172
Description:
1bp deletion
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NM_015335.4(MED13L):c.73-5del

Allele ID
759982
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
12q24.21
Genomic location
12: 116237710 (GRCh38) GRCh38 UCSC
12: 116675515 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.116675519del
NC_000012.12:g.116237714del
NM_015335.4:c.73-5del
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000012.12:116237709:AAAAA:AAAA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1593196291
Varsome
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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 Feb 28, 2018 RCV000914029.1
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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
503 520

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Feb 28, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001059188.1
Submitted: (Mar 14, 2019)
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 rs1593196291...

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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 Mar 07, 2021