NM_001849.4(COL6A2):c.770C>T (p.Pro257Leu) AND Bethlem myopathy 1A
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 5, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002619671.3
Allele description [Variation Report for NM_001849.4(COL6A2):c.770C>T (p.Pro257Leu)]
NM_001849.4(COL6A2):c.770C>T (p.Pro257Leu)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024