NM_080680.3(COL11A2):c.5084G>A (p.Arg1695Gln) AND Otospondylomegaepiphyseal dysplasia, autosomal recessive
- 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:
- RCV001152082.4
Allele description [Variation Report for NM_080680.3(COL11A2):c.5084G>A (p.Arg1695Gln)]
NM_080680.3(COL11A2):c.5084G>A (p.Arg1695Gln)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024