NM_080680.3(COL11A2):c.3697C>T (p.Arg1233Cys) AND Otospondylomegaepiphyseal dysplasia, autosomal recessive
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 5, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001332797.1
Allele description [Variation Report for NM_080680.3(COL11A2):c.3697C>T (p.Arg1233Cys)]
NM_080680.3(COL11A2):c.3697C>T (p.Arg1233Cys)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024