GRCh37/hg19 15q21.1(chr15:45360338-45437443)x2 AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 10, 2018
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:: RCV000659227.3

Allele description [Variation Report for GRCh37/hg19 15q21.1(chr15:45360338-45437443)x2]

GRCh37/hg19 15q21.1(chr15:45360338-45437443)x2

Genes:: DUOX1:dual oxidase 1 [Gene - OMIM - HGNC]
DUOX2:dual oxidase 2 [Gene - OMIM - HGNC]
DUOXA1:dual oxidase maturation factor 1 [Gene - OMIM - HGNC]
DUOXA2:dual oxidase maturation factor 2 [Gene - OMIM - HGNC]
SORD:sorbitol dehydrogenase [Gene - OMIM - HGNC]
Variant type:: copy number loss
Cytogenetic location:: 15q21.1
Genomic location:: Chr15: 45360338 - 45437443 (on Assembly GRCh37)
Preferred name:: GRCh37/hg19 15q21.1(chr15:45360338-45437443)x2
HGVS:: NC_000015.9:g.(?_45360338)_(45437443_?)del
This HGVS expression did not pass validation
Observations:: 1

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000781044	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (Praxis fuer Humangenetik Tuebingen - Variant Classification Criteria)	Likely pathogenic (Jan 10, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000781044

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(Praxis fuer Humangenetik Tuebingen - Variant Classification Criteria)

Likely pathogenic
(Jan 10, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV000781044.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	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	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Dec 24, 2022

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