NM_206933.4(USH2A):c.11390-10C>T AND not specified

Clinical significance:Likely benign (Last evaluated: Mar 18, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001002427.2

Allele description [Variation Report for NM_206933.4(USH2A):c.11390-10C>T]

NM_206933.4(USH2A):c.11390-10C>T

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.11390-10C>T
HGVS:
  • NC_000001.11:g.215743345G>A
  • NG_009497.1:g.685052C>T
  • NG_009497.2:g.685104C>T
  • NM_206933.4:c.11390-10C>TMANE SELECT
  • NC_000001.10:g.215916687G>A
Links:
dbSNP: rs750110818
NCBI 1000 Genomes Browser:
rs750110818
Molecular consequence:
  • NM_206933.4:c.11390-10C>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001160364ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratoriescriteria provided, single submitter
Likely benign
(Mar 18, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001160364.1

#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: Nov 11, 2021

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