NM_005188.4(CBL):c.107ACC[8] (p.His42dup) AND multiple conditions
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Dec 5, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002490443.1
Allele description [Variation Report for NM_005188.4(CBL):c.107ACC[8] (p.His42dup)]
NM_005188.4(CBL):c.107ACC[8] (p.His42dup)
Condition(s)
- Name:
- Juvenile myelomonocytic leukemia (JMML)
- Synonyms:
- LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC
- Identifiers:
- MONDO: MONDO:0011908; MedGen: C0349639; Orphanet: 86834; OMIM: 607785; Human Phenotype Ontology: HP:0012209
- Name:
- CBL-related disorder
- Synonyms:
- Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia; CBL MUTATION-ASSOCIATED SYNDROME; CBL SYNDROME; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0013308; MedGen: C3150803; OMIM: 613563
Assertion and evidence details
Last Updated: May 12, 2024