NM_001848.3(COL6A1):c.750C>A (p.Phe250Leu) AND Bethlem myopathy 1A
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000653567.11
Allele description [Variation Report for NM_001848.3(COL6A1):c.750C>A (p.Phe250Leu)]
NM_001848.3(COL6A1):c.750C>A (p.Phe250Leu)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024