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CRB1, ALU INS, NT2320

Variation ID: Help
5729
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Oct 1, 1999
Number of submission(s):
1
Condition(s):
Retinitis pigmentosa 12[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

CRB1, ALU INS, NT2320

Allele ID:
20768
Variant type:
Insertion
Cytogenetic location:
1q31-q32.1
Other names:
  • ALU INS, NT2320
Links:
OMIM: 604210.0001

1 Affected gene

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Oct 1, 1999)
no assertion criteria providedliterature onlygermlineOMIMSCV000026265.3
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Jun 17, 2019

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