NM_007373.4(SHOC2):c.91T>C (p.Ser31Pro) AND RASopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 3, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003655687.1
Allele description [Variation Report for NM_007373.4(SHOC2):c.91T>C (p.Ser31Pro)]
NM_007373.4(SHOC2):c.91T>C (p.Ser31Pro)
Condition(s)
- Name:
- RASopathy
- Synonyms:
- rasopathies; Noonan spectrum disorder
- Identifiers:
- MONDO: MONDO:0021060; MedGen: C5555857
Assertion and evidence details
Last Updated: Feb 28, 2024