NM_001849.4(COL6A2):c.2043C>T (p.Ile681=) AND Bethlem myopathy 1A
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 22, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000887661.9
Allele description [Variation Report for NM_001849.4(COL6A2):c.2043C>T (p.Ile681=)]
NM_001849.4(COL6A2):c.2043C>T (p.Ile681=)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024