NM_000540.3(RYR1):c.6806dup (p.Ser2270fs) AND not provided
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Nov 22, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000266687.8
Allele description [Variation Report for NM_000540.3(RYR1):c.6806dup (p.Ser2270fs)]
NM_000540.3(RYR1):c.6806dup (p.Ser2270fs)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Sep 29, 2024