NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln) AND Miyoshi muscular dystrophy 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 22, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003469174.2
Allele description [Variation Report for NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln)]
NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024