GRCh38/hg38 12q24.21(chr12:116019418-116054358)x1 AND See cases

Clinical significance:Pathogenic (Last evaluated: Aug 12, 2011)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000051340.4

Allele description [Variation Report for GRCh38/hg38 12q24.21(chr12:116019418-116054358)x1]

GRCh38/hg38 12q24.21(chr12:116019418-116054358)x1

Gene:
MED13L:mediator complex subunit 13L [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
12q24.21
Genomic location:
Preferred name:
GRCh38/hg38 12q24.21(chr12:116019418-116054358)x1
HGVS:
  • NC_000012.12:g.(?_116019418)_(116054358_?)del
  • NC_000012.10:g.(?_114941606)_(114976546_?)del
  • NC_000012.11:g.(?_116457223)_(116492163_?)del
Links:
dbVar: nssv577405; dbVar: nsv529864
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000078686GeneDxcriteria provided, single submitter
Pathogenic
(Aug 12, 2011)
de novoclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, et al.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PubMed [citation]
PMID:
21844811
PMCID:
PMC3661946

Details of each submission

From GeneDx, SCV000078686.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Mar 7, 2021

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