NM_005188.4(CBL):c.1074A>G (p.Gln358=) AND RASopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 25, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000460268.11
Allele description [Variation Report for NM_005188.4(CBL):c.1074A>G (p.Gln358=)]
NM_005188.4(CBL):c.1074A>G (p.Gln358=)
Condition(s)
- Name:
- RASopathy
- Synonyms:
- rasopathies; Noonan spectrum disorder
- Identifiers:
- MONDO: MONDO:0021060; MedGen: C5555857
Assertion and evidence details
Last Updated: Oct 8, 2024