NM_001849.4(COL6A2):c.799A>C (p.Lys267Gln) AND Bethlem myopathy 1A
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 11, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001049712.8
Allele description [Variation Report for NM_001849.4(COL6A2):c.799A>C (p.Lys267Gln)]
NM_001849.4(COL6A2):c.799A>C (p.Lys267Gln)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024