NM_001849.4(COL6A2):c.1945G>A (p.Ala649Thr) AND Bethlem myopathy 1A
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 21, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000873283.12
Allele description [Variation Report for NM_001849.4(COL6A2):c.1945G>A (p.Ala649Thr)]
NM_001849.4(COL6A2):c.1945G>A (p.Ala649Thr)
Condition(s)
Assertion and evidence details
Last Updated: Oct 8, 2024