NM_004369.4(COL6A3):c.8576C>T (p.Pro2859Leu) AND Bethlem myopathy 1A
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Feb 14, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003631828.2
Allele description [Variation Report for NM_004369.4(COL6A3):c.8576C>T (p.Pro2859Leu)]
NM_004369.4(COL6A3):c.8576C>T (p.Pro2859Leu)
Condition(s)
Assertion and evidence details
Last Updated: Oct 8, 2024