NM_080680.3(COL11A2):c.5000G>A (p.Arg1667His) AND Fibrochondrogenesis 2
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000271332.6
Allele description [Variation Report for NM_080680.3(COL11A2):c.5000G>A (p.Arg1667His)]
NM_080680.3(COL11A2):c.5000G>A (p.Arg1667His)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024