NM_001844.5(COL2A1):c.2908_2909dup (p.Pro971fs) AND Stickler syndrome type 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 14, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000853283.1
Allele description [Variation Report for NM_001844.5(COL2A1):c.2908_2909dup (p.Pro971fs)]
NM_001844.5(COL2A1):c.2908_2909dup (p.Pro971fs)
Condition(s)
Assertion and evidence details
Last Updated: Apr 23, 2022