GRCh38/hg38 Xq23(chrX:111294396-111417260)x3 AND See cases

Clinical significance:Uncertain significance (Last evaluated: May 14, 2013)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000133717.3

Allele description [Variation Report for GRCh38/hg38 Xq23(chrX:111294396-111417260)x3]

GRCh38/hg38 Xq23(chrX:111294396-111417260)x3

Gene:
DCX:doublecortin [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
Xq23
Genomic location:
Preferred name:
GRCh38/hg38 Xq23(chrX:111294396-111417260)x3
HGVS:
  • NC_000023.11:g.(?_111294396)_(111417260_?)dup
  • NC_000023.10:g.(?_110537624)_(110660488_?)dup
  • NC_000023.9:g.(?_110424280)_(110547144_?)dup
Links:
dbVar: nssv3396113; dbVar: nssv575680; dbVar: nsv491763
Observations:
2

Condition(s)

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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000173120ISCA site 4

See additional submitters

no assertion criteria providedUncertain significance
(May 14, 2013)
not providedclinical testing

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

Description

Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter.

SCV000173120

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes2not providednot providednot providednot providedclinical testing

Citations

PubMed

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.

Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

PubMed [citation]
PMID:
20466091
PMCID:
PMC2869000

Details of each submission

From ISCA site 4, SCV000173120.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
2not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided
2not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Jun 17, 2019

Support Center