NM_000070.3(CAPN3):c.1714C>T (p.Arg572Trp) AND not provided
- Germline classification:
- Pathogenic (3 submissions)
- Last evaluated:
- Apr 25, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000725109.25
Allele description [Variation Report for NM_000070.3(CAPN3):c.1714C>T (p.Arg572Trp)]
NM_000070.3(CAPN3):c.1714C>T (p.Arg572Trp)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Aug 4, 2024