NM_001848.3(COL6A1):c.*138G>A AND Collagen 6-related myopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001138671.4
Allele description [Variation Report for NM_001848.3(COL6A1):c.*138G>A]
NM_001848.3(COL6A1):c.*138G>A
Condition(s)
- Name:
- Collagen 6-related myopathy
- Synonyms:
- Collagen VI-related myopathy
- Identifiers:
- MONDO: MONDO:0100225; MedGen: CN117976
Assertion and evidence details
Last Updated: Apr 9, 2023