NM_000089.4(COL1A2):c.1216_1218del (p.Gly406del) AND Osteogenesis imperfecta
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 6, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001260278.2
Allele description [Variation Report for NM_000089.4(COL1A2):c.1216_1218del (p.Gly406del)]
NM_000089.4(COL1A2):c.1216_1218del (p.Gly406del)
Condition(s)
Assertion and evidence details
Last Updated: May 7, 2024