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NC_000011.10:g.47333340G>A AND Left ventricular noncompaction cardiomyopathy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 14, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000292654.5

Allele description [Variation Report for NC_000011.10:g.47333340G>A]

NC_000011.10:g.47333340G>A

Gene:
MYBPC3:myosin binding protein C3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p11.2
Genomic location:
Preferred name:
NC_000011.10:g.47333340G>A
HGVS:
  • NC_000011.10:g.47333340G>A
  • NG_007667.1:g.24363C>T
  • NM_000256.3:c.3191-7C>TMANE SELECT
  • LRG_386t1:c.3191-7C>T
  • LRG_386:g.24363C>T
  • NC_000011.9:g.47354891G>A
Links:
dbSNP: rs373012629
NCBI 1000 Genomes Browser:
rs373012629

Condition(s)

Name:
Left ventricular noncompaction cardiomyopathy
Identifiers:
MedGen: C4021133; Human Phenotype Ontology: HP:0011664

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000372291Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Uncertain significance
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000372291.2

#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: Oct 13, 2024