NM_001844.5(COL2A1):c.1681-2_1681-1del AND Stickler syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Nov 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000826159.4
Allele description [Variation Report for NM_001844.5(COL2A1):c.1681-2_1681-1del]
NM_001844.5(COL2A1):c.1681-2_1681-1del
Condition(s)
Assertion and evidence details
Last Updated: Dec 24, 2022