GRCh37/hg19 13q12.12(chr13:23519916-24928440)x1 AND See cases

Clinical significance:Uncertain significance

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:
RCV000449195.1

Allele description [Variation Report for GRCh37/hg19 13q12.12(chr13:23519916-24928440)x1]

GRCh37/hg19 13q12.12(chr13:23519916-24928440)x1

Genes:
Variant type:
copy number loss
Cytogenetic location:
13q12.12
Genomic location:
Chr13: 23519916 - 24928440 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 13q12.12(chr13:23519916-24928440)x1
HGVS:
NC_000013.10:g.(?_23519916)_(24928440_?)del
Links:
dbVar: nssv13646374; dbVar: nsv2771763
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
SCV000501756ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratoriesno assertion criteria providedUncertain significancenot providedclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not providednot providednot providednot providedclinical testing

Details of each submission

From ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories, SCV000501756.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Dec 25, 2020

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