NM_004369.4(COL6A3):c.7584G>A (p.Glu2528=) AND Bethlem myopathy 1A
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003517562.1
Allele description [Variation Report for NM_004369.4(COL6A3):c.7584G>A (p.Glu2528=)]
NM_004369.4(COL6A3):c.7584G>A (p.Glu2528=)
Condition(s)
Assertion and evidence details
Last Updated: Jun 23, 2024