NM_000326.5(RLBP1):c.346+3_346+8del AND Retinitis Pigmentosa, Recessive

Clinical significance:Likely benign (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:
RCV000320481.2

Allele description [Variation Report for NM_000326.5(RLBP1):c.346+3_346+8del]

NM_000326.5(RLBP1):c.346+3_346+8del

Gene:
RLBP1:retinaldehyde binding protein 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_000326.5(RLBP1):c.346+3_346+8del
HGVS:
  • NC_000015.10:g.89217112_89217117del
  • NG_008116.1:g.9575_9580del
  • NM_000326.5:c.346+3_346+8delMANE SELECT
  • NC_000015.9:g.89760343_89760348del
  • NM_000326.4:c.346+3_346+8del
  • NM_000326.4:c.346+3_346+8delGAGGCC
Links:
dbSNP: rs56307321
NCBI 1000 Genomes Browser:
rs56307321
Molecular consequence:
  • NM_000326.5:c.346+3_346+8del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Retinitis Pigmentosa, Recessive
Identifiers:
MedGen: CN239466

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000394116Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(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, SCV000394116.2

#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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