NM_004369.4(COL6A3):c.8243C>T (p.Pro2748Leu) AND Bethlem myopathy 1A
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000701627.8
Allele description [Variation Report for NM_004369.4(COL6A3):c.8243C>T (p.Pro2748Leu)]
NM_004369.4(COL6A3):c.8243C>T (p.Pro2748Leu)
Condition(s)
Assertion and evidence details
Last Updated: Apr 15, 2024