NM_001848.3(COL6A1):c.751G>A (p.Glu251Lys) AND Bethlem myopathy 1A
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Dec 28, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001054436.9
Allele description [Variation Report for NM_001848.3(COL6A1):c.751G>A (p.Glu251Lys)]
NM_001848.3(COL6A1):c.751G>A (p.Glu251Lys)
Condition(s)
Assertion and evidence details
Last Updated: Oct 8, 2024