NM_001130987.2(DYSF):c.342del (p.Ala116fs) AND multiple conditions
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- May 12, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002502101.2
Allele description [Variation Report for NM_001130987.2(DYSF):c.342del (p.Ala116fs)]
NM_001130987.2(DYSF):c.342del (p.Ala116fs)
Condition(s)
- Name:
- Miyoshi muscular dystrophy 1 (MMD1)
- Identifiers:
- MONDO: MONDO:0024545; MedGen: C4551973; Orphanet: 45448; OMIM: 254130
Assertion and evidence details
Last Updated: Oct 8, 2024