NM_001005242.3(PKP2):c.2483C>T (p.Thr828Ile) AND Cardiovascular phenotype
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 24, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004019721.1
Allele description [Variation Report for NM_001005242.3(PKP2):c.2483C>T (p.Thr828Ile)]
NM_001005242.3(PKP2):c.2483C>T (p.Thr828Ile)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
Assertion and evidence details
Last Updated: Dec 22, 2024