NM_000070.3(CAPN3):c.1699G>T (p.Gly567Trp) AND CAPN3-related disorder
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 27, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004532716.1
Allele description [Variation Report for NM_000070.3(CAPN3):c.1699G>T (p.Gly567Trp)]
NM_000070.3(CAPN3):c.1699G>T (p.Gly567Trp)
Condition(s)
- Name:
- CAPN3-related disorder
- Synonyms:
- CAPN3-Related Disorders; CAPN3-related condition
- Identifiers:
- MedGen: CN239245
Assertion and evidence details
Last Updated: Nov 3, 2024