NM_001379500.1(COL18A1):c.2785G>A (p.Gly929Ser) AND COL18A1-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 23, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004553612.2
Allele description [Variation Report for NM_001379500.1(COL18A1):c.2785G>A (p.Gly929Ser)]
NM_001379500.1(COL18A1):c.2785G>A (p.Gly929Ser)
Condition(s)
- Name:
- COL18A1-related disorder
- Synonyms:
- COL18A1-related disorders; COL18A1-related condition
- Identifiers:
Assertion and evidence details
Last Updated: Oct 13, 2024