NM_002427.4(MMP13):c.1082A>G (p.Asp361Gly) AND Spondyloepimetaphyseal dysplasia, Missouri type
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000342010.5
Allele description [Variation Report for NM_002427.4(MMP13):c.1082A>G (p.Asp361Gly)]
NM_002427.4(MMP13):c.1082A>G (p.Asp361Gly)
Condition(s)
Assertion and evidence details
Last Updated: Jul 29, 2023