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GRCh37/hg19 12p13.31(chr12:8242561-8264933)x1 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 15, 2017
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:
RCV000849611.2

Allele description [Variation Report for GRCh37/hg19 12p13.31(chr12:8242561-8264933)x1]

GRCh37/hg19 12p13.31(chr12:8242561-8264933)x1

Gene:
NECAP1:NECAP endocytosis associated 1 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
12p13.31
Genomic location:
Chr12: 8242561 - 8264933 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 12p13.31(chr12:8242561-8264933)x1
HGVS:
NC_000012.11:g.(?_8242561)_(8264933_?)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
SCV000991753Bionano Laboratories
no assertion criteria provided
Pathogenic
(May 15, 2017) 		unknownclinical testing

Help

Summary from all submissions

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

Details of each submission

From Bionano Laboratories, SCV000991753.1

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

Last Updated: Dec 11, 2022