NM_004369.4(COL6A3):c.8738C>A (p.Ala2913Asp) AND Bethlem myopathy 1A
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 21, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002574169.10
Allele description [Variation Report for NM_004369.4(COL6A3):c.8738C>A (p.Ala2913Asp)]
NM_004369.4(COL6A3):c.8738C>A (p.Ala2913Asp)
Condition(s)
Assertion and evidence details
Last Updated: Oct 13, 2024