NM_004369.4(COL6A3):c.786C>T (p.Leu262=) AND Bethlem myopathy 1A
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 29, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001079205.7
Allele description [Variation Report for NM_004369.4(COL6A3):c.786C>T (p.Leu262=)]
NM_004369.4(COL6A3):c.786C>T (p.Leu262=)
Condition(s)
Assertion and evidence details
Last Updated: Apr 15, 2024