NM_016599.5(MYOZ2):c.383C>G (p.Ser128Cys) AND Cardiovascular phenotype
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 27, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002355435.2
Allele description [Variation Report for NM_016599.5(MYOZ2):c.383C>G (p.Ser128Cys)]
NM_016599.5(MYOZ2):c.383C>G (p.Ser128Cys)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
Assertion and evidence details
Last Updated: May 1, 2024