NM_020975.6(RET):c.582G>A (p.Gln194=) AND Multiple endocrine neoplasia type 2B
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 7, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003316111.1
Allele description [Variation Report for NM_020975.6(RET):c.582G>A (p.Gln194=)]
NM_020975.6(RET):c.582G>A (p.Gln194=)
Condition(s)
- Name:
- Multiple endocrine neoplasia type 2B
- Synonyms:
- MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN IIB; NEUROMATA, MUCOSAL, WITH ENDOCRINE TUMORS; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008082; MeSH: D018814; MedGen: C0025269; Orphanet: 653; OMIM: 162300
Assertion and evidence details
Last Updated: Oct 20, 2024