NM_000069.3(CACNA1S):c.4543+2T>C AND Malignant hyperthermia, susceptibility to, 5
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003446576.1
Allele description [Variation Report for NM_000069.3(CACNA1S):c.4543+2T>C]
NM_000069.3(CACNA1S):c.4543+2T>C
Condition(s)
Assertion and evidence details
Last Updated: Aug 4, 2024