NM_004369.4(COL6A3):c.3287G>A (p.Arg1096His) AND Bethlem myopathy 1
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 20, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001087811.15
Allele description [Variation Report for NM_004369.4(COL6A3):c.3287G>A (p.Arg1096His)]
NM_004369.4(COL6A3):c.3287G>A (p.Arg1096His)
Condition(s)
Assertion and evidence details
Last Updated: Mar 16, 2024