NM_001849.4(COL6A2):c.123C>T (p.Thr41=) AND Bethlem myopathy 1A
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 23, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001500123.6
Assertion and evidence details
Last Updated: Jun 17, 2024