NM_004369.4(COL6A3):c.1389C>T (p.Ala463=) AND Bethlem myopathy 1
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Dec 8, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000556953.3
Allele description
NM_004369.4(COL6A3):c.1389C>T (p.Ala463=)
Condition(s)
Assertion and evidence details
Last Updated: Apr 23, 2022