NM_000540.3(RYR1):c.7850C>T (p.Ser2617Leu) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 12, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003355619.2
Allele description [Variation Report for NM_000540.3(RYR1):c.7850C>T (p.Ser2617Leu)]
NM_000540.3(RYR1):c.7850C>T (p.Ser2617Leu)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
Assertion and evidence details
Last Updated: Sep 29, 2024