NM_000152.5(GAA):c.762G>A (p.Ser254=) AND Cardiovascular phenotype
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 6, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002395572.9
Allele description [Variation Report for NM_000152.5(GAA):c.762G>A (p.Ser254=)]
NM_000152.5(GAA):c.762G>A (p.Ser254=)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
Assertion and evidence details
Last Updated: Jun 29, 2024