NM_004369.4(COL6A3):c.8621C>T (p.Thr2874Met) AND Bethlem myopathy 1A
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 2, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000546406.7
Allele description [Variation Report for NM_004369.4(COL6A3):c.8621C>T (p.Thr2874Met)]
NM_004369.4(COL6A3):c.8621C>T (p.Thr2874Met)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024