NM_080680.3(COL11A2):c.3725C>T (p.Ser1242Leu) AND Stickler Syndrome, Dominant
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000280238.5
Allele description [Variation Report for NM_080680.3(COL11A2):c.3725C>T (p.Ser1242Leu)]
NM_080680.3(COL11A2):c.3725C>T (p.Ser1242Leu)
Condition(s)
- Name:
- Stickler Syndrome, Dominant
- Identifiers:
- MedGen: CN239460
Assertion and evidence details
Last Updated: Mar 5, 2024