NM_003283.6(TNNT1):c.791+192dup AND not provided

Clinical significance:Benign (Last evaluated: Aug 10, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001723085.1

Allele description [Variation Report for NM_003283.6(TNNT1):c.791+192dup]

NM_003283.6(TNNT1):c.791+192dup

Gene:
TNNT1:troponin T1, slow skeletal type [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
19q13.42
Genomic location:
Preferred name:
NM_003283.6(TNNT1):c.791+192dup
HGVS:
  • NC_000019.10:g.55133695dup
  • NG_011829.2:g.20558dup
  • NM_001126132.3:c.743+192dup
  • NM_001126133.3:c.710+192dup
  • NM_001291774.2:c.710+192dup
  • NM_003283.6:c.791+192dupMANE SELECT
  • LRG_679t1:c.791+192dup
  • LRG_679:g.20558dup
  • NC_000019.9:g.55645063dup
Molecular consequence:
  • NM_001126132.3:c.743+192dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001126133.3:c.710+192dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001291774.2:c.710+192dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003283.6:c.791+192dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001947180GeneDxcriteria provided, single submitter
Benign
(Aug 10, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001947180.1

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

Last Updated: Nov 6, 2021

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