NM_007078.3(LDB3):c.690-4617G>A AND Cardiomyopathy, left ventricular noncompaction

Clinical significance:Uncertain significance (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000287151.2

Allele description [Variation Report for NM_007078.3(LDB3):c.690-4617G>A]

NM_007078.3(LDB3):c.690-4617G>A

Genes:
LDB3:LIM domain binding 3 [Gene - OMIM - HGNC]
LOC110121486:VISTA enhancer hs2143 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.2
Genomic location:
Preferred name:
NM_007078.3(LDB3):c.690-4617G>A
HGVS:
  • NC_000010.11:g.86687279G>A
  • NG_008876.1:g.23716G>A
  • NG_054099.1:g.3308G>A
  • NM_001080114.2:c.548+7G>A
  • NM_001080115.2:c.690-4617G>A
  • NM_001080116.1:c.548+7G>A
  • NM_001171610.2:c.893+7G>A
  • NM_001171611.2:c.893+7G>A
  • NM_001368063.1:c.690-4617G>A
  • NM_001368064.1:c.690-4617G>A
  • NM_001368065.1:c.690-4617G>A
  • NM_001368066.1:c.548+7G>A
  • NM_001368067.1:c.548+7G>A
  • NM_001368068.1:c.548+7G>A
  • NM_007078.3:c.690-4617G>AMANE SELECT
  • LRG_385t1:c.690-4617G>A
  • LRG_385t2:c.548+7G>A
  • LRG_385:g.23716G>A
  • NC_000010.10:g.88447036G>A
  • NM_007078.2:c.690-4617G>A
Links:
dbSNP: rs754174632
NCBI 1000 Genomes Browser:
rs754174632
Molecular consequence:
  • NM_001080114.2:c.548+7G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001080115.2:c.690-4617G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001080116.1:c.548+7G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001171610.2:c.893+7G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001171611.2:c.893+7G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368063.1:c.690-4617G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368064.1:c.690-4617G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368065.1:c.690-4617G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368066.1:c.548+7G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368067.1:c.548+7G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368068.1:c.548+7G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007078.3:c.690-4617G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Cardiomyopathy, left ventricular noncompaction
Synonyms:
Left ventricular non-compaction cardiomyopathy
Identifiers:
MedGen: C4021133; Human Phenotype Ontology: HP:0011664

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000365590Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000365590.2

#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: Sep 29, 2021

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