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SOX2, 20-BP DEL, NT70

Variation ID: Help
12823
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Nov 1, 2008
Number of submission(s):
1
Condition(s):
Microphthalmia syndromic 3[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

SOX2, 20-BP DEL, NT70

Allele ID:
27862
Variant type:
Deletion
Cytogenetic location:
3q26.3-q27
Other names:
  • 20-BP DEL, NT70
Links:
OMIM: 184429.0010

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
(Nov 1, 2008)
no assertion criteria providedliterature onlygermlineOMIMSCV000033918.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Sep 6, 2017