NM_001035.3(RYR2):c.12664G>A (p.Glu4222Lys) AND Catecholaminergic polymorphic ventricular tachycardia
- 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:
- RCV004009117.2
Allele description [Variation Report for NM_001035.3(RYR2):c.12664G>A (p.Glu4222Lys)]
NM_001035.3(RYR2):c.12664G>A (p.Glu4222Lys)
Condition(s)
- Name:
- Catecholaminergic polymorphic ventricular tachycardia (CVPT)
- Synonyms:
- Familial polymorphic ventricular tachycardia; Catecholamine-induced polymorphic ventricular tachycardia; Polymorphic catecholergic ventricular tachycardia
- Identifiers:
- MONDO: MONDO:0017990; MedGen: C5574922; Orphanet: 3286; OMIM: PS604772
Assertion and evidence details
Last Updated: Sep 8, 2024