NM_004369.4(COL6A3):c.9175del (p.Val3059fs) AND Ullrich congenital muscular dystrophy 1A
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Aug 18, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003147874.8
Allele description [Variation Report for NM_004369.4(COL6A3):c.9175del (p.Val3059fs)]
NM_004369.4(COL6A3):c.9175del (p.Val3059fs)
Condition(s)
Assertion and evidence details
Last Updated: May 7, 2024