NM_004369.4(COL6A3):c.6193G>C (p.Gly2065Arg) AND not provided
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Dec 11, 2015
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000329760.1
Allele description
NM_004369.4(COL6A3):c.6193G>C (p.Gly2065Arg)
Condition(s)
- Identifiers:
- MedGen: CN517202
Assertion and evidence details
Last Updated: Dec 4, 2021