NM_001844.5(COL2A1):c.2617G>T (p.Gly873Trp) AND Stickler syndrome type 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002248504.1
Allele description [Variation Report for NM_001844.5(COL2A1):c.2617G>T (p.Gly873Trp)]
NM_001844.5(COL2A1):c.2617G>T (p.Gly873Trp)
Condition(s)
Assertion and evidence details
Last Updated: May 28, 2022