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NM_000257.4(MYH7):c.5656-8dup AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 10, 2015
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:
RCV000403868.4

Allele description [Variation Report for NM_000257.4(MYH7):c.5656-8dup]

NM_000257.4(MYH7):c.5656-8dup

Gene:
MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
14q11.2
Genomic location:
Preferred name:
NM_000257.4(MYH7):c.5656-8dup
HGVS:
  • NC_000014.9:g.23413901dup
  • NG_007884.1:g.26761dup
  • NM_000257.4:c.5656-8dupMANE SELECT
  • LRG_384:g.26761dup
  • NC_000014.8:g.23883109_23883110insA
  • NC_000014.8:g.23883110dup
Links:
dbSNP: rs886042307
NCBI 1000 Genomes Browser:
rs886042307
Molecular consequence:
  • NM_000257.4:c.5656-8dup - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000333274Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions)		Uncertain significance
(Aug 10, 2015) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000333274.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024