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GRCh37/hg19 6q27(chr6:167167381-167433823)x1 AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 26, 2018
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000682746.1

Allele description [Variation Report for GRCh37/hg19 6q27(chr6:167167381-167433823)x1]

GRCh37/hg19 6q27(chr6:167167381-167433823)x1

Genes:
CEP43:centrosomal protein 43 [Gene - OMIM - HGNC]
RNASET2:ribonuclease T2 [Gene - OMIM - HGNC]
RPS6KA2:ribosomal protein S6 kinase A2 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
6q27
Genomic location:
Chr6: 167167381 - 167433823 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 6q27(chr6:167167381-167433823)x1
HGVS:
NC_000006.11:g.(?_167167381)_(167433823_?)del

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000810253Quest Diagnostics Nichols Institute San Juan Capistrano
no assertion criteria provided
Uncertain significance
(Mar 26, 2018) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000810253.1

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

Last Updated: Apr 23, 2022