NM_001848.3(COL6A1):c.278A>G (p.Tyr93Cys) AND Bethlem myopathy 1A
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 10, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002823963.3
Allele description [Variation Report for NM_001848.3(COL6A1):c.278A>G (p.Tyr93Cys)]
NM_001848.3(COL6A1):c.278A>G (p.Tyr93Cys)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024