NM_000231.3(SGCG):c.525del (p.Phe175fs) AND SGCG-related congenital myopathy
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 1, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004586589.1
Allele description [Variation Report for NM_000231.3(SGCG):c.525del (p.Phe175fs)]
NM_000231.3(SGCG):c.525del (p.Phe175fs)
Condition(s)
- Name:
- SGCG-related congenital myopathy
- Identifiers:
Assertion and evidence details
Last Updated: Oct 20, 2024