NM_000152.5(GAA):c.1251C>T (p.Asn417=) AND Cardiovascular phenotype
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 21, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002412105.2
Allele description [Variation Report for NM_000152.5(GAA):c.1251C>T (p.Asn417=)]
NM_000152.5(GAA):c.1251C>T (p.Asn417=)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
Assertion and evidence details
Last Updated: May 1, 2024