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GRCh37/hg19 12q24.21(chr12:116484240-116564043)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 18, 2021)
Last evaluated:
Mar 15, 2021
Accession:
VCV001047900.1
Variation ID:
1047900
Description:
copy number loss
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GRCh37/hg19 12q24.21(chr12:116484240-116564043)

Allele ID
1035719
Variant type
copy number loss
Variant length
-
Cytogenetic location
12q24.21
Genomic location
12: 116484240-116564043 (GRCh37) GRCh37 UCSC
HGVS
-
Protein change
-
Other names
-
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Mar 15, 2021 RCV001352669.1
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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
Pathogenic
(Mar 15, 2021)
criteria provided, single submitter
Method: clinical testing
Global developmental delay
Generalized hypotonia
Allele origin: de novo
Medical Genetics Laboratory,CHRU Nancy
Accession: SCV001547237.1
Submitted: (Mar 18, 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.

Record last updated Sep 23, 2021