NM_006912.6(RIT1):c.244T>G (p.Phe82Val) AND Cardiovascular phenotype
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 6, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002453562.2
Allele description [Variation Report for NM_006912.6(RIT1):c.244T>G (p.Phe82Val)]
NM_006912.6(RIT1):c.244T>G (p.Phe82Val)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
Assertion and evidence details
Last Updated: Sep 29, 2024