NM_005188.4(CBL):c.2190G>C (p.Thr730=) AND CBL-related disorder
- Germline classification:
- Benign (2 submissions)
- Last evaluated:
- May 17, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000391887.7
Allele description
NM_005188.4(CBL):c.2190G>C (p.Thr730=)
Condition(s)
- 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: Sep 29, 2024