GRCh37/hg19 20p13(chr20:241301-584723)x3 AND See cases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 20, 2016
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000240241.1

Allele description [Variation Report for GRCh37/hg19 20p13(chr20:241301-584723)x3]

GRCh37/hg19 20p13(chr20:241301-584723)x3

Genes:

RBCK1:RANBP2-type and C3HC4-type zinc finger containing 1 [Gene - OMIM - HGNC]
SOX12:SRY-box transcription factor 12 [Gene - OMIM - HGNC]
TBC1D20:TBC1 domain family member 20 [Gene - OMIM - HGNC]
CSNK2A1:casein kinase 2 alpha 1 [Gene - OMIM - HGNC]
C20orf96:chromosome 20 open reading frame 96 [Gene - HGNC]
DEFB132:defensin beta 132 [Gene - HGNC]
NRSN2:neurensin 2 [Gene - OMIM - HGNC]
TCF15:transcription factor 15 [Gene - OMIM - HGNC]
TRIB3:tribbles pseudokinase 3 [Gene - OMIM - HGNC]
ZCCHC3:zinc finger CCHC-type containing 3 [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

20p13

Genomic location:

Chr20: 241301 - 584723 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 20p13(chr20:241301-584723)x3

HGVS:

Condition(s)

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

Recent activity

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RNA for Nucleotide (Select 2020878726) (1000)
Nucleotide
txid49034[Organism:noexp] (2)
BioProject
Homo sapiens forkhead box N4 (FOXN4), mRNA
Homo sapiens forkhead box N4 (FOXN4), mRNA
gi|1519315594|ref|NM_213596.3|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000299029	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Jan 20, 2016)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000299029

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Jan 20, 2016)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000299029.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 26, 2023

ClinVar

Relating variation to medicine

GRCh37/hg19 20p13(chr20:241301-584723)x3 AND See cases

Allele description [Variation Report for GRCh37/hg19 20p13(chr20:241301-584723)x3]

GRCh37/hg19 20p13(chr20:241301-584723)x3

Condition(s)

Recent activity

Assertion and evidence details

Summary from all submissions

Details of each submission

From GeneDx, SCV000299029.1