NM_001130987.2(DYSF):c.342del (p.Ala116fs) AND not provided
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Oct 1, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000377821.26
Allele description [Variation Report for NM_001130987.2(DYSF):c.342del (p.Ala116fs)]
NM_001130987.2(DYSF):c.342del (p.Ala116fs)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Oct 8, 2024