NM_001005242.3(PKP2):c.1943A>G (p.Lys648Arg) AND Cardiovascular phenotype
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002422657.3
Allele description [Variation Report for NM_001005242.3(PKP2):c.1943A>G (p.Lys648Arg)]
NM_001005242.3(PKP2):c.1943A>G (p.Lys648Arg)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
Assertion and evidence details
Last Updated: Sep 29, 2024