NM_016203.4(PRKAG2):c.44C>T (p.Ser15Phe) AND Lethal congenital glycogen storage disease of heart
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003827949.3
Allele description [Variation Report for NM_016203.4(PRKAG2):c.44C>T (p.Ser15Phe)]
NM_016203.4(PRKAG2):c.44C>T (p.Ser15Phe)
Condition(s)
Assertion and evidence details
Last Updated: May 16, 2025