NM_001849.4(COL6A2):c.201C>T (p.Leu67=) AND Bethlem myopathy 1A
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 10, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001503213.13
Allele description [Variation Report for NM_001849.4(COL6A2):c.201C>T (p.Leu67=)]
NM_001849.4(COL6A2):c.201C>T (p.Leu67=)
Condition(s)
Assertion and evidence details
Last Updated: May 7, 2024