NM_001849.4(COL6A2):c.803G>A (p.Gly268Asp) AND not provided
- Germline classification:
- Pathogenic/Likely pathogenic (2 submissions)
- Last evaluated:
- Oct 15, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000050246.19
Allele description [Variation Report for NM_001849.4(COL6A2):c.803G>A (p.Gly268Asp)]
NM_001849.4(COL6A2):c.803G>A (p.Gly268Asp)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Oct 13, 2024