NM_001005242.3(PKP2):c.2233A>G (p.Ile745Val) AND Cardiovascular phenotype
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 4, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002453521.2
Allele description [Variation Report for NM_001005242.3(PKP2):c.2233A>G (p.Ile745Val)]
NM_001005242.3(PKP2):c.2233A>G (p.Ile745Val)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
Assertion and evidence details
Last Updated: Jan 19, 2025