NM_001849.4(COL6A2):c.620C>G (p.Thr207Arg) AND Collagen 6-related myopathy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000393856.5
Allele description [Variation Report for NM_001849.4(COL6A2):c.620C>G (p.Thr207Arg)]
NM_001849.4(COL6A2):c.620C>G (p.Thr207Arg)
Condition(s)
- Name:
- Collagen 6-related myopathy
- Synonyms:
- Collagen VI-related myopathy
- Identifiers:
- MONDO: MONDO:0100225; MedGen: CN117976
Assertion and evidence details
Last Updated: Jun 17, 2024