NM_001848.3(COL6A1):c.286G>A (p.Glu96Lys) AND Bethlem myopathy 1A
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 12, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000540674.6
Allele description [Variation Report for NM_001848.3(COL6A1):c.286G>A (p.Glu96Lys)]
NM_001848.3(COL6A1):c.286G>A (p.Glu96Lys)
Condition(s)
Assertion and evidence details
Last Updated: Jun 17, 2024