GRCh37/hg19 2q13(chr2:110852875-111398472)x1 AND See cases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 25, 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:: RCV000598664.2

Allele description [Variation Report for GRCh37/hg19 2q13(chr2:110852875-111398472)x1]

GRCh37/hg19 2q13(chr2:110852875-111398472)x1

Genes:: BUB1:BUB1 mitotic checkpoint serine/threonine kinase [Gene - OMIM - HGNC]
LIMS4:LIM zinc finger domain containing 4 [Gene - HGNC]
RGPD6:RANBP2 like and GRIP domain containing 6 [Gene - OMIM - HGNC]
MALL:mal, T cell differentiation protein like [Gene - OMIM - HGNC]
NPHP1:nephrocystin 1 [Gene - OMIM - HGNC]
Variant type:: copy number loss
Cytogenetic location:: 2q13
Genomic location:: Chr2: 110852875 - 111398472 (on Assembly GRCh37)
Preferred name:: GRCh37/hg19 2q13(chr2:110852875-111398472)x1
HGVS:: NC_000002.11:g.(?_110852875)_(111398472_?)del
This HGVS expression did not pass validation
Observations:: 1

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000709783	Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington	criteria provided, single submitter (Clinical Cytogenomics Laboratory Policy on CNV Interpretation)	Uncertain significance (May 25, 2016)	unknown	clinical testing	Clinical Cytogenomics Laboratory Policy on CNV Interpretation.docx Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000709783

Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington

criteria provided, single submitter

(Clinical Cytogenomics Laboratory Policy on CNV Interpretation)

Uncertain significance
(May 25, 2016)

unknown

clinical testing

Clinical Cytogenomics Laboratory Policy on CNV Interpretation.docx

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington, SCV000709783.3

#	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	unknown	yes	not provided	Amniocytes	not provided		1	not provided	1	not provided

Last Updated: Dec 11, 2022

ClinVar

Relating variation to medicine