NM_005188.4(CBL):c.1095+19G>T AND CBL-related disorder
- Germline classification:
- Benign (2 submissions)
- Last evaluated:
- Jul 14, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000610899.11
Allele description [Variation Report for NM_005188.4(CBL):c.1095+19G>T]
NM_005188.4(CBL):c.1095+19G>T
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: Oct 26, 2024