NM_001130987.2(DYSF):c.342del (p.Ala116fs) AND Autosomal recessive limb-girdle muscular dystrophy type 2B
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 12, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000593550.3
Allele description [Variation Report for NM_001130987.2(DYSF):c.342del (p.Ala116fs)]
NM_001130987.2(DYSF):c.342del (p.Ala116fs)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024