NM_007373.4(SHOC2):c.183A>G (p.Gln61=) AND RASopathy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 17, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002056048.5
Allele description [Variation Report for NM_007373.4(SHOC2):c.183A>G (p.Gln61=)]
NM_007373.4(SHOC2):c.183A>G (p.Gln61=)
Condition(s)
- Name:
- RASopathy
- Synonyms:
- rasopathies; Noonan spectrum disorder
- Identifiers:
- MONDO: MONDO:0021060; MedGen: C5555857
Assertion and evidence details
Last Updated: May 1, 2024