NM_001849.4(COL6A2):c.2069C>G (p.Ala690Gly) AND Ullrich congenital muscular dystrophy 1A
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 1, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000784949.3
Allele description [Variation Report for NM_001849.4(COL6A2):c.2069C>G (p.Ala690Gly)]
NM_001849.4(COL6A2):c.2069C>G (p.Ala690Gly)
Condition(s)
Assertion and evidence details
Last Updated: Sep 1, 2024