GRCh37/hg19 3q29(chr3:193360287-193360759)x1 AND See cases

Clinical significance:Likely pathogenic (Last evaluated: Jan 20, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000239909.1

Allele description [Variation Report for GRCh37/hg19 3q29(chr3:193360287-193360759)x1]

GRCh37/hg19 3q29(chr3:193360287-193360759)x1

Gene:
OPA1:OPA1 mitochondrial dynamin like GTPase [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
3q29
Genomic location:
Chr3: 193360287 - 193360759 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 3q29(chr3:193360287-193360759)x1
HGVS:
NC_000003.11:g.(?_193360287)_(193360759_?)del

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000298258GeneDxcriteria provided, single submitter
Likely pathogenic
(Jan 20, 2016)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000298258.1

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

Last Updated: Feb 27, 2021

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