GRCh37/hg19 17q21.31(chr17:44213187-44292319)x1 AND not provided

Clinical significance:Benign (Last evaluated: Jun 25, 2014)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

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Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000739589.2

Allele description [Variation Report for GRCh37/hg19 17q21.31(chr17:44213187-44292319)x1]

GRCh37/hg19 17q21.31(chr17:44213187-44292319)x1

Gene:
KANSL1:KAT8 regulatory NSL complex subunit 1 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
17q21.31
Genomic location:
Chr17: 44213187 - 44292319 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 17q21.31(chr17:44213187-44292319)x1
HGVS:
NC_000017.10:g.(?_44213187)_(44292319_?)del

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000867925Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Centerno assertion criteria providedBenign
(Jun 25, 2014) 		unknownclinical testing

Summary from all submissions

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

Details of each submission

From Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center, SCV000867925.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing
(GTR000295241.2)		not provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providedbuccal swabnot provided
(GTR000295241.2)		not providednot providednot providednot provided

Last Updated: Mar 4, 2023