NM_005633.4(SOS1):c.3330G>C (p.Ser1110=) AND RASopathy
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Apr 18, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000520406.8
Allele description [Variation Report for NM_005633.4(SOS1):c.3330G>C (p.Ser1110=)]
NM_005633.4(SOS1):c.3330G>C (p.Ser1110=)
Condition(s)
- Name:
- RASopathy
- Synonyms:
- rasopathies; Noonan spectrum disorder
- Identifiers:
- MONDO: MONDO:0021060; MedGen: C5555857
Assertion and evidence details
Last Updated: May 1, 2024