NM_001844.5(COL2A1):c.654+4dup AND Stickler syndrome type 1
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Aug 27, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001787259.1
Allele description [Variation Report for NM_001844.5(COL2A1):c.654+4dup]
NM_001844.5(COL2A1):c.654+4dup
Condition(s)
Assertion and evidence details
Last Updated: Dec 24, 2023