NM_006912.6(RIT1):c.229G>T (p.Ala77Ser) AND Noonan syndrome 8
- Germline classification:
- Pathogenic (3 submissions)
- Last evaluated:
- Apr 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001861885.6
Allele description [Variation Report for NM_006912.6(RIT1):c.229G>T (p.Ala77Ser)]
NM_006912.6(RIT1):c.229G>T (p.Ala77Ser)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024