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NM_182894.3(VSX2):c.*579C>T AND Microphthalmia, isolated, with coloboma 3

Germline classification:
Benign (1 submission)
Last evaluated:
Jan 13, 2018
Review status:
Somatic classification
of clinical impact:
None
Review status:
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
no assertion criteria provided
Record status:
current
Accession:
RCV000272644.5

Allele description [Variation Report for NM_182894.3(VSX2):c.*579C>T]

NM_182894.3(VSX2):c.*579C>T

Gene:
VSX2:visual system homeobox 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q24.3
Genomic location:
Preferred name:
NM_182894.3(VSX2):c.*579C>T
HGVS:
  • NC_000014.9:g.74261498C>T
  • NG_013092.1:g.27027C>T
  • NM_182894.3:c.*579C>TMANE SELECT
  • NC_000014.8:g.74728201C>T
  • NM_182894.2:c.*579C>T
Links:
dbSNP: rs12588074
NCBI 1000 Genomes Browser:
rs12588074
Molecular consequence:
  • NM_182894.3:c.*579C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:
Microphthalmia, isolated, with coloboma 3 (MCOPCB3)
Synonyms:
MICROPHTHALMIA/COLOBOMA 3; MICROPHTHALMIA, COLOBOMATOUS, 3
Identifiers:
MONDO: MONDO:0012408; MedGen: C1864721; Orphanet: 98938; OMIM: 610092

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000388472Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)
Benign
(Jan 13, 2018)
germlineclinical testing

Citation Link

Last Updated: Sep 29, 2024

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