NM_004369.4(COL6A3):c.8359G>A (p.Ala2787Thr) AND Bethlem myopathy 1A
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 25, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000820442.7
Allele description [Variation Report for NM_004369.4(COL6A3):c.8359G>A (p.Ala2787Thr)]
NM_004369.4(COL6A3):c.8359G>A (p.Ala2787Thr)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024