NM_004369.4(COL6A3):c.4510C>T (p.Arg1504Trp) AND Bethlem myopathy 1A
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 25, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000528795.18
Allele description [Variation Report for NM_004369.4(COL6A3):c.4510C>T (p.Arg1504Trp)]
NM_004369.4(COL6A3):c.4510C>T (p.Arg1504Trp)
Condition(s)
Assertion and evidence details
Last Updated: Apr 20, 2024