NM_004369.4(COL6A3):c.2219G>A (p.Arg740His) AND Bethlem myopathy 1A
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 9, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000793471.6
Allele description [Variation Report for NM_004369.4(COL6A3):c.2219G>A (p.Arg740His)]
NM_004369.4(COL6A3):c.2219G>A (p.Arg740His)
Condition(s)
Assertion and evidence details
Last Updated: Apr 15, 2024