NM_177438.3(DICER1):c.3269+12C>T AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 9, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002499991.2
Allele description [Variation Report for NM_177438.3(DICER1):c.3269+12C>T]
NM_177438.3(DICER1):c.3269+12C>T
Condition(s)
- Name:
- Euthyroid goiter (MNG1)
- Synonyms:
- GOITER, NONTOXIC, WITH INTRATHYROIDAL CALCIFICATION; MULTINODULAR GOITER, ADOLESCENT; SIMPLE GOITER; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007681; MedGen: C0302859; Orphanet: 276399; OMIM: 138800; Human Phenotype Ontology: HP:0009798
- Name:
- Rhabdomyosarcoma, embryonal, 2 (RMSE2)
- Identifiers:
- MONDO: MONDO:0859046; MedGen: C1867234; OMIM: 180295
- Name:
- Pleuropulmonary blastoma (PPB)
- Identifiers:
- MONDO: MONDO:0011014; MedGen: C1266144; OMIM: 601200; Human Phenotype Ontology: HP:0100528
Assertion and evidence details
Last Updated: Feb 28, 2024