NM_001848.3(COL6A1):c.3041G>A (p.Arg1014His) AND Bethlem myopathy 1A
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Aug 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000705525.6
Allele description [Variation Report for NM_001848.3(COL6A1):c.3041G>A (p.Arg1014His)]
NM_001848.3(COL6A1):c.3041G>A (p.Arg1014His)
Condition(s)
Assertion and evidence details
Last Updated: Apr 15, 2024