NM_001849.4(COL6A2):c.2058C>T (p.Ser686=) AND Bethlem myopathy 1A
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 21, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001500171.7
Allele description [Variation Report for NM_001849.4(COL6A2):c.2058C>T (p.Ser686=)]
NM_001849.4(COL6A2):c.2058C>T (p.Ser686=)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024