NM_000540.3(RYR1):c.11608+2T>C AND RYR1-Related Disorders
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Sep 15, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000815205.4
Allele description [Variation Report for NM_000540.3(RYR1):c.11608+2T>C]
NM_000540.3(RYR1):c.11608+2T>C
Condition(s)
- Name:
- RYR1-Related Disorders
- Identifiers:
- MedGen: CN239331
Assertion and evidence details
Last Updated: Feb 20, 2024