NM_001849.4(COL6A2):c.284G>A (p.Arg95His) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 28, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002519138.2
Allele description [Variation Report for NM_001849.4(COL6A2):c.284G>A (p.Arg95His)]
NM_001849.4(COL6A2):c.284G>A (p.Arg95His)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
Assertion and evidence details
Last Updated: May 1, 2024