NM_004333.6(BRAF):c.2128-5del AND Noonan syndrome with multiple lentigines
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000375627.5
Allele description [Variation Report for NM_004333.6(BRAF):c.2128-5del]
NM_004333.6(BRAF):c.2128-5del
Condition(s)
- Name:
- Noonan syndrome with multiple lentigines (NSML)
- Synonyms:
- Lentigines, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth, Deafness; Cardiomyopathic lentiginosis; LEOPARD syndrome
- Identifiers:
- MONDO: MONDO:0007893; MedGen: C0175704; Orphanet: 500; OMIM: PS151100
Assertion and evidence details
Last Updated: Feb 20, 2024